An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .
An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.
Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation.
'Blood Protein Disorders' refer to conditions characterized by an abnormal amount, structure, or function of proteins present in the blood, including immunoglobulins, coagulation factors, complement components, and transport proteins, which can lead to various clinical manifestations such as immune dysfunction, bleeding disorders, or metabolic imbalances.
A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
One of three major isoforms of apolipoprotein E. In humans, Apo E2 differs from APOLIPOPROTEIN E3 at one residue 158 where arginine is replaced by cysteine (R158--C). In contrast to Apo E3, Apo E2 displays extremely low binding affinity for LDL receptors (RECEPTORS, LDL) which mediate the internalization and catabolism of lipoprotein particles in liver cells. ApoE2 allelic homozygosity is associated with HYPERLIPOPROTEINEMIA TYPE III.
A class of lipoproteins of very light (0.93-1.006 g/ml) large size (30-80 nm) particles with a core composed mainly of TRIGLYCERIDES and a surface monolayer of PHOSPHOLIPIDS and CHOLESTEROL into which are imbedded the apolipoproteins B, E, and C. VLDL facilitates the transport of endogenously made triglycerides to extrahepatic tissues. As triglycerides and Apo C are removed, VLDL is converted to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LOW-DENSITY LIPOPROTEINS from which cholesterol is delivered to the extrahepatic tissues.
Conditions with excess LIPIDS in the blood.
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.
Triglycerides are the most common type of fat in the body, stored in fat cells and used as energy; they are measured in blood tests to assess heart disease risk, with high levels often resulting from dietary habits, obesity, physical inactivity, smoking, and alcohol consumption.
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
A 34-kDa glycosylated protein. A major and most common isoform of apolipoprotein E. Therefore, it is also known as apolipoprotein E (ApoE). In human, Apo E3 is a 299-amino acid protein with a cysteine at the 112 and an arginine at the 158 position. It is involved with the transport of TRIGLYCERIDES; PHOSPHOLIPIDS; CHOLESTEROL; and CHOLESTERYL ESTERS in and out of the cells.
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinemia Type I. (Dorland, 27th ed) EC 3.1.1.34.
Protein components on the surface of LIPOPROTEINS. They form a layer surrounding the hydrophobic lipid core. There are several classes of apolipoproteins with each playing a different role in lipid transport and LIPID METABOLISM. These proteins are synthesized mainly in the LIVER and the INTESTINES.
A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues.
A class of lipoproteins that carry dietary CHOLESTEROL and TRIGLYCERIDES from the SMALL INTESTINE to the tissues. Their density (0.93-1.006 g/ml) is the same as that of VERY-LOW-DENSITY LIPOPROTEINS.
Electrophoresis applied to BLOOD PROTEINS.
A group of apolipoproteins that can readily exchange among the various classes of lipoproteins (HDL; VLDL; CHYLOMICRONS). After lipolysis of TRIGLYCERIDES on VLDL and chylomicrons, Apo-C proteins are normally transferred to HDL. The subtypes can modulate remnant binding to receptors, LECITHIN CHOLESTEROL ACYLTRANSFERASE, or LIPOPROTEIN LIPASE.
Cholesterol which is contained in or bound to very low density lipoproteins (VLDL). High circulating levels of VLDL cholesterol are found in HYPERLIPOPROTEINEMIA TYPE IIB. The cholesterol on the VLDL is eventually delivered by LOW-DENSITY LIPOPROTEINS to the tissues after the catabolism of VLDL to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LDL.
Receptors on the plasma membrane of nonhepatic cells that specifically bind LDL. The receptors are localized in specialized regions called coated pits. Hypercholesteremia is caused by an allelic genetic defect of three types: 1, receptors do not bind to LDL; 2, there is reduced binding of LDL; and 3, there is normal binding but no internalization of LDL. In consequence, entry of cholesterol esters into the cell is impaired and the intracellular feedback by cholesterol on 3-hydroxy-3-methylglutaryl CoA reductase is lacking.
A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS. It contains a cofactor for LIPOPROTEIN LIPASE and activates several triacylglycerol lipases. The association of Apo C-II with plasma CHYLOMICRONS; VLDL, and HIGH-DENSITY LIPOPROTEINS is reversible and changes rapidly as a function of triglyceride metabolism. Clinically, Apo C-II deficiency is similar to lipoprotein lipase deficiency (HYPERLIPOPROTEINEMIA TYPE I) and is therefore called hyperlipoproteinemia type IB.
Electrophoresis in which paper is used as the diffusion medium. This technique is confined almost entirely to separations of small molecules such as amino acids, peptides, and nucleotides, and relatively high voltages are nearly always used.
A lipid-regulating agent that lowers elevated serum lipids primarily by decreasing serum triglycerides with a variable reduction in total cholesterol.
A bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones.
The 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholanic acid family of bile acids in man, usually conjugated with glycine or taurine. They act as detergents to solubilize fats for intestinal absorption, are reabsorbed by the small intestine, and are used as cholagogues and choleretics.
Interferon secreted by leukocytes, fibroblasts, or lymphoblasts in response to viruses or interferon inducers other than mitogens, antigens, or allo-antigens. They include alpha- and beta-interferons (INTERFERON-ALPHA and INTERFERON-BETA).
A condition of elevated levels of TRIGLYCERIDES in the blood.
A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.
Centrifugation with a centrifuge that develops centrifugal fields of more than 100,000 times gravity. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A highly acidic mucopolysaccharide formed of equal parts of sulfated D-glucosamine and D-glucuronic acid with sulfaminic bridges. The molecular weight ranges from six to twenty thousand. Heparin occurs in and is obtained from liver, lung, mast cells, etc., of vertebrates. Its function is unknown, but it is used to prevent blood clotting in vivo and vitro, in the form of many different salts.
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)
A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).
An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3.
Cholesterol present in food, especially in animal products.
Electrophoresis in which agar or agarose gel is used as the diffusion medium.
Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.
The most common form of fibrillar collagen. It is a major constituent of bone (BONE AND BONES) and SKIN and consists of a heterotrimer of two alpha1(I) and one alpha2(I) chains.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
An individual in which both alleles at a given locus are identical.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current.
Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.
The protein components of a number of complexes, such as enzymes (APOENZYMES), ferritin (APOFERRITINS), or lipoproteins (APOLIPOPROTEINS).
A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.

Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. (1/68)

Raised plasma triglycerides (TGs) and nonesterified fatty acid (NEFA) concentrations are thought to play a role in the pathogenesis of insulin-resistant diabetes. We report on two sisters with extreme hypertriglyceridemia and overt diabetes, in whom surgical normalization of TGs cured the diabetes. In all of the family members (parents, two affected sisters, ages 18 and 15 years, and an 11-year-old unaffected sister), we measured oral glucose tolerance, insulin sensitivity (by the euglycemic-hyperinsulinemic clamp technique), substrate oxidation (indirect calorimetry), endogenous glucose production (by the [6,6-2H2]glucose technique), and postheparin plasma lipoprotein lipase (LPL) activity. In addition, GC-clamped polymerase chain reaction-amplified DNA from the promoter region and the 10 coding LPL gene exons were screened for nucleotide substitution. Two silent mutations were found in the father's exon 4 (Glu118 Glu) and in the mother's exon 8 (Thr361 Thr), while a nonsense mutation (Ser447 Ter) was detected in the mother's exon 9. Mutations in exons 4 and 8 were inherited by the two affected girls. At 1-2 years after the appearance of hyperchylomicronemia, both sisters developed hyperglycemia with severe insulin resistance. Because medical therapy (including high-dose insulin) failed to reduce plasma TGs or control glycemia, lipid malabsorption was surgically induced by a modified biliopancreatic diversion. Within 3 weeks of surgery, plasma TGs and NEFA and cholesterol levels were drastically lowered. Concurrently, fasting plasma glucose levels fell from 17 to 5 mmol/l (with no therapy), while insulin-stimulated glucose uptake, oxidation, and storage were all markedly improved. Throughout the observation period, plasma TG levels were closely correlated with both plasma glucose and insulin concentrations, as measured during the oral glucose tolerance test. These cases provide evidence that insulin-resistant diabetes can be caused by extremely high levels of TGs.  (+info)

Chylomicron metabolism in an animal model for hyperlipoproteinemia type I. (2/68)

Mink homozygous for the mutation Pro214Leu in lipoprotein lipase (LPL) had only traces of LPL activity but amounts of LPL protein in their tissues similar to those of normal mink. In normal mink, lymph chylomicrons from rats given [3H]retinol (incorporated into retinyl esters, providing a core label) and [14C]oleic acid (incorporated mainly in triglycerides (TG)) were rapidly cleared from the circulation. In the homozygous mink, clearance was much retarded. The ratio of TG to core label in plasma did not decrease and much less [14C]oleic acid appeared in plasma. Still, half of the labeled material disappeared from the circulating blood within 30;-40 min and the calculated total turnover of TG in the hypertriglyceridemic mink was almost as large as in normal mink. The core label was distributed to the same tissues in hypertriglyceridemic mink as in normal mink. Half to two-thirds of the cleared core label was in the liver. The large difference was that in the hypertriglyceridemic mink, TG label (about 40% of the total amount removed) followed the core label to the liver and there was no preferential uptake of TG over core label in adipose or muscle tissue. In normal mink, only small amounts of TG label (<10%) appeared in the liver, while most was in adipose and muscle tissues. Apolipoprotein B-48 dominated in the accumulated TG-rich lipoproteins in blood of hypertriglyceridemic mink, even in fasted animals.  (+info)

Relative hypoglycemia and hyperinsulinemia in mice with heterozygous lipoprotein lipase (LPL) deficiency. Islet LPL regulates insulin secretion. (3/68)

Lipoprotein lipase (LPL) provides tissues with fatty acids, which have complex effects on glucose utilization and insulin secretion. To determine if LPL has direct effects on glucose metabolism, we studied mice with heterozygous LPL deficiency (LPL+/-). LPL+/- mice had mean fasting glucose values that were up to 39 mg/dl lower than LPL+/+ littermates. Despite having lower glucose levels, LPL+/- mice had fasting insulin levels that were twice those of +/+ mice. Hyperinsulinemic clamp experiments showed no effect of genotype on basal or insulin-stimulated glucose utilization. LPL message was detected in mouse islets, INS-1 cells (a rat insulinoma cell line), and human islets. LPL enzyme activity was detected in the media from both mouse and human islets incubated in vitro. In mice, +/- islets expressed half the enzyme activity of +/+ islets. Islets isolated from +/+ mice secreted less insulin in vitro than +/- and -/- islets, suggesting that LPL suppresses insulin secretion. To test this notion directly, LPL enzyme activity was manipulated in INS-1 cells. INS-1 cells treated with an adeno-associated virus expressing human LPL had more LPL enzyme activity and secreted less insulin than adeno-associated virus-beta-galactosidase-treated cells. INS-1 cells transfected with an antisense LPL oligonucleotide had less LPL enzyme activity and secreted more insulin than cells transfected with a control oligonucleotide. These data suggest that islet LPL is a novel regulator of insulin secretion. They further suggest that genetically determined levels of LPL play a role in establishing glucose levels in mice.  (+info)

Acquired lipoprotein lipase deficiency associated with chronic urticaria. A new etiology for type I hyperlipoproteinemia. (4/68)

Type I hyperlipoproteinemia (type I HLP) is a rare disorder of lipid metabolism characterized by fasting chylomicronemia and reduced postheparin plasma lipoprotein lipase (LPL) activity. Most cases of type I HLP are due to genetic defects in the LPL gene or in its activator, the apolipoprotein CII gene. Several cases of acquired type I HLP have also been described in the course of autoimmune diseases due to the presence of circulating inhibitors of LPL. Here we report a case of type I HLP due to a transient defect of LPL activity during puberty associated with chronic idiopathic urticaria (CIU). The absence of any circulating LPL inhibitor in plasma during the disease was demonstrated. The LPL genotype showed that the patient was heterozygous for the D9N variant. This mutation, previously described, can explain only minor defects in the LPL activity. The presence of HLP just after the onset of CIU, and the elevation of the LPL activity with remission of the HLP when the patient recovered from CIU, indicate that type I HLP was caused by CIU. In summary, we report a new etiology for type I HLP - a transient decrease in LPL activity associated with CIU and with absence of circulating inhibitors. This is the first description of this association, which suggests a new mechanism for type I HLP.  (+info)

Concentrations of electrophoretic and size subclasses of apolipoprotein A-I-containing particles in human peripheral lymph. (5/68)

When cultured cells are exposed to plasma, the initial acceptors of unesterified cholesterol are small lipid-poor apolipoprotein A-I (apoA-I)-containing high density lipoproteins (HDLs) with pre-beta electrophoretic mobility. These are converted by lecithin:cholesterol acyltransferase into larger spheroidal cholesteryl ester-rich HDLs with alpha mobility. To study the determinants of the concentration of small pre-beta HDLs in tissue fluids, we collected prenodal peripheral lymph from 34 fasted normal men. By crossed immunoelectrophoresis, the concentration of pre-beta HDLs in lymph averaged 20% of that in plasma. On multiple regression analysis, pre-beta apoA-I concentration in lymph was directly related to pre-beta apoA-I concentration in plasma and independently to alpha apoA-I concentration in lymph. Similar results were obtained when the same apoA-I-containing particles were quantified by size exclusion chromatography. Lymph pre-beta apoA-I concentration was low in a subject with familial lecithin:cholesterol acyltransferase deficiency, despite a normal plasma pre-beta apoA-I concentration, but was normal in a subject with familial lipoprotein lipase deficiency. These results suggest that the concentration of small pre-beta HDLs in human tissue fluids is determined only in part by the transfer of pre-beta HDLs across capillary endothelium from plasma. Local production, by remodeling of spheroidal alpha HDLs in tissue fluids, may be equally important. Lipolysis of triglyceride-rich lipoproteins by lipoprotein lipase appears to have little effect.  (+info)

Renin-angiotensin system polymorphisms and coronary events in familial hypercholesterolemia. (6/68)

The role of renin-angiotensin system polymorphisms as risk factors for coronary heart disease (CHD) is controversial. This study investigated their role in patients with heterozygous familial hypercholesterolemia (FH). Polymorphism frequencies for angiotensin-I-converting enzyme insertion/deletion (ACE I/D), angiotensinogen M235T, and angiotensin-II type I receptor (AG2R) A1166C were determined in 112 patients with FH and 72 patients with polygenic hypercholesterolemia, of whom 26.7% and 41.6%, respectively, had established CHD. None of the polymorphisms were associated with risk of CHD in patients with polygenic hypercholesterolemia in this study. Logistic regression analysis of risk factors for CHD in patients with FH identified male sex (odds ratio [OR]=3.03; 95% CI, 3.07 to 3.72; P=0.05), smoking (OR=2.91; 95% CI, 2.16 to 4.24; P=0.05), diastolic blood pressure (OR=3.70; 95% CI, 3.43 to 3.97; P=0.02), plasma glucose (OR=3.31; 95% CI, 3. 10 to 3.52; P=0.04), and the AG2R A1166C polymorphism as risk factors. The OR for the AG2R A1166C polymorphism was 2.26 (95% CI, 1.26 to 3.72; P=0.06) and increased to 3.10 (95% CI, 1.20 to 7.52; P=0.04) after adjustment for other risk factors. The AG2R A1166C polymorphism may interact with severe hypercholesterolemia and other risk factors to increase risk of CHD in FH patients.  (+info)

A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia. (7/68)

We systematically investigated the molecular defects resulting in primary lipoprotein lipase (LPL) deficiency in a Japanese male infant (hereafter called 'the patient') with severe fasting hypertriglyceridaemia (type I hyperlipoproteinaemia). The primary LPL deficiency was diagnosed on the basis of the findings that no LPL activity was detected in post-heparin plasma (PHP) and that the immunoreactive LPL mass in PHP was less than 2% of the control level. The patient was a compound heterozygote for a novel missense mutation (G(568)GA-->AGA/Gly(105)-->Arg; G105R) in exon 3 and a missense mutation (GAC(867)-->GAG/Asp(204)-->Glu; D204E) in exon 5 of the LPL gene. The biological significance of both missense mutations was examined by an in vitro study of the expression of the mutant G105R LPL cDNA and D204E LPL cDNA in COS-1 cells. Both mutant LPLs were catalytically inactive and were barely released by heparin from the expressing COS-1 cells. These findings explain the failure to detect LPL activity and immunoreactive LPL mass in the patient's PHP. The G105R allele could be detected by digestion with the BsmAI restriction enzyme, and the D204E allele by digestion with HincII. The patient inherited the G105R allele from his mother and the D204E allele from his father. His parents were heterozygotes for the corresponding mutant allele, but normolipidaemic. The novel G105R missense mutation could not be detected by conventional analysis of single-strand conformation polymorphism, but it was identified by extensive sequencing of the entire exons and their flanking regions in the LPL gene.  (+info)

Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8. (8/68)

We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents. Patient DI had neither LPL activity nor immunoreactive LPL mass in the pre- and post-heparin plasma. The patient was a compound heterozygote for novel mutations consisting of a G-to-T transversion at the first nucleotide of exon 5 [+1 position of 3' acceptor splice site (3'-ass) of intron 4] and a T-to-C transition in the invariant GT at position +2 of the 5' donor splice site (5'-dss) of intron 8 (Int8/5'-dss/t(+2)c). The G-to-T transversion, although affecting the 11 nucleotide of the 3'-consensus acceptor splice site, resulted in a substitution of Gly(154) to Val (G154V; GG(716)C(-->)GTC). The mutant G154V LPL expressed in COS-1 cells was catalytically inactive and hardly released from the cells by heparin. The Int8/5'-dss/t(+2)c mutation inactivated the authentic 5' splice site of intron 8 and led to the utilization of a cryptic 5'-dss in exon 8 as an alternative splice site 133 basepairs upstream from the authentic splice site, thereby causing joining of a part of exon 8 to exon 9 with skipping of a 134-bp fragment of exon 8 and intron 8. These additional mutations in the consensus sequences of the 3' and 5' splice sites might be useful for better understanding the factors that are involved in splice site selection in vivo.  (+info)

Hyperlipoproteinemia Type I, also known as Familial Lipoprotein Lipase Deficiency, is a rare genetic disorder characterized by an absence or deficiency of the enzyme lipoprotein lipase. This enzyme is responsible for breaking down chylomicrons, which are large lipoprotein particles that transport dietary triglycerides from the intestines to the liver and peripheral tissues.

As a result of this deficiency, chylomicrons accumulate in the bloodstream, leading to elevated levels of triglycerides (hypertriglyceridemia) and chylomicrons (chylomiconemia). This condition can cause eruptive xanthomas, which are collections of lipid-laden foam cells that form under the skin, and recurrent pancreatitis, which is inflammation of the pancreas.

Hyperlipoproteinemia Type I is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Treatment typically involves a low-fat diet and medications to reduce triglyceride levels.

Hyperlipoproteinemia Type V is a rare genetic disorder characterized by an excess of lipids (fats) in the blood. It is caused by mutations in genes responsible for the metabolism of lipoproteins, which are particles that transport fat molecules, such as cholesterol and triglycerides, throughout the body.

In Hyperlipoproteinemia Type V, there is a significant increase in the levels of both chylomicrons (lipoprotein particles that carry dietary lipids) and very low-density lipoproteins (VLDLs, lipoprotein particles that carry endogenous lipids produced by the liver). This results in extremely high levels of triglycerides and moderately elevated levels of cholesterol in the blood.

Individuals with Hyperlipoproteinemia Type V are at an increased risk for developing pancreatitis (inflammation of the pancreas), eruptive xanthomas (small, yellowish bumps on the skin caused by cholesterol deposits), and hepatosplenomegaly (enlargement of the liver and spleen). The diagnosis is typically made based on clinical presentation, family history, and laboratory tests that measure lipid levels. Treatment often involves dietary modifications, weight loss, exercise, and medications to lower lipid levels in the blood.

Hyperlipoproteinemia Type III, also known as Broad Beta Disease or Remnant Hyperlipidemia, is a genetic disorder characterized by an increased level of chylomicron remnants and intermediate-density lipoproteins (IDL) in the blood. This results in elevated levels of both low-density lipoprotein (LDL), or "bad" cholesterol, and triglycerides, and decreased levels of high-density lipoprotein (HDL), or "good" cholesterol. The condition can lead to premature atherosclerosis and an increased risk for cardiovascular disease. It is caused by mutations in the APOE gene, which encodes the apolipoprotein E protein, leading to abnormal clearance of lipoproteins from the blood.

Hyperlipoproteinemia Type IV is a genetic disorder characterized by an increased level of very low-density lipoproteins (VLDL) in the blood. This leads to elevated levels of triglycerides, which are a type of fat found in the blood. The condition is also sometimes referred to as "Fredrickson Type IV."

People with Hyperlipoproteinemia Type IV have an increased risk of developing pancreatitis, a potentially life-threatening inflammation of the pancreas, due to high levels of triglycerides. They may also have an increased risk of cardiovascular disease due to elevated levels of VLDL and other atherogenic lipoproteins.

The condition is usually inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disorder if one parent has it. However, some cases may be caused by mutations in multiple genes or by environmental factors such as obesity, diabetes, and excessive alcohol consumption.

Treatment for Hyperlipoproteinemia Type IV typically involves lifestyle modifications such as weight loss, exercise, and dietary changes to reduce triglyceride levels. In some cases, medication may be necessary to control the condition.

Hyperlipoproteinemias are medical conditions characterized by elevated levels of lipoproteins in the blood. Lipoproteins are particles that consist of proteins and lipids, which are responsible for transporting all fat molecules, such as cholesterol and triglycerides, around the body within the water outside cells. These lipids cannot dissolve in the blood, so they must be carried by these lipoprotein particles.

There are several types of hyperlipoproteinemias, classified based on the type of lipoprotein that is elevated and the pattern of inheritance. The most commonly recognized classification system is the Fredrickson classification, which includes five main types:

1. Type I - characterized by an excess of chylomicrons, a type of lipoprotein that carries dietary lipids, leading to extremely high levels of triglycerides in the blood. This rare disorder is usually caused by genetic mutations.
2. Type II - divided into two subtypes:
a. Type IIa - characterized by elevated LDL (low-density lipoprotein), or "bad" cholesterol, levels and often associated with premature cardiovascular disease. This condition can be caused by genetic factors, lifestyle choices, or both.
b. Type IIb - marked by increased levels of both LDL cholesterol and VLDL (very low-density lipoprotein), which leads to elevated triglycerides and cholesterol in the blood. This subtype can also be influenced by genetic factors, lifestyle choices, or both.
3. Type III - known as broad beta disease or remnant removal disease, this condition is characterized by an abnormal accumulation of remnant particles from VLDL and IDL (intermediate-density lipoprotein) metabolism, leading to increased levels of both cholesterol and triglycerides. This disorder can be caused by genetic mutations or secondary factors like diabetes, obesity, or hypothyroidism.
4. Type IV - characterized by elevated VLDL particles and high triglyceride levels in the blood. This condition is often associated with metabolic syndrome, obesity, diabetes, and alcohol consumption.
5. Type V - marked by increased VLDL and chylomicrons (lipoprotein particles that transport dietary lipids) in the blood, leading to extremely high triglyceride levels. This rare condition can be caused by genetic factors or secondary factors like diabetes, obesity, alcohol consumption, or uncontrolled lipid absorption.

It is important to note that these types are not mutually exclusive and can coexist in various combinations. Additionally, lifestyle choices such as diet, exercise, smoking, and alcohol consumption can significantly impact lipoprotein levels and contribute to the development of dyslipidemia (abnormal lipid levels).

Blood protein disorders refer to a group of medical conditions that affect the production or function of proteins in the blood. These proteins are crucial for maintaining the proper functioning of the body's immune system, transporting nutrients, and preventing excessive bleeding. Some examples of blood protein disorders include:

1. Hemophilia: A genetic disorder caused by a deficiency or absence of clotting factors in the blood, leading to prolonged bleeding and poor clot formation.
2. Von Willebrand disease: A genetic disorder characterized by abnormal or deficient von Willebrand factor, which is necessary for platelet function and proper clotting.
3. Dysproteinemias: Abnormal levels of certain proteins in the blood, such as immunoglobulins (antibodies) or paraproteins, which can indicate underlying conditions like multiple myeloma or macroglobulinemia.
4. Hypoproteinemia: Low levels of total protein in the blood, often caused by liver disease, malnutrition, or kidney disease.
5. Hyperproteinemia: Elevated levels of total protein in the blood, which can be caused by dehydration, inflammation, or certain types of cancer.
6. Hemoglobinopathies: Genetic disorders affecting the structure and function of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Examples include sickle cell anemia and thalassemia.
7. Disorders of complement proteins: Abnormalities in the complement system, which is a group of proteins involved in the immune response, can lead to conditions like autoimmune disorders or recurrent infections.

Treatment for blood protein disorders varies depending on the specific condition and its severity but may include medications, transfusions, or other medical interventions.

Hyperlipoproteinemia Type II, also known as Fredrickson Type II or Familial Combined Hyperlipidemia, is a genetic disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol and/or triglycerides in the blood. This condition can lead to an increased risk of developing cardiovascular diseases such as atherosclerosis and coronary artery disease.

The disorder is caused by mutations in several genes involved in lipid metabolism, including APOB, LDLR, PCSK9, and APOE. These genetic defects result in impaired clearance of LDL particles from the bloodstream, leading to their accumulation and increased risk of cardiovascular disease.

Individuals with Hyperlipoproteinemia Type II typically have elevated levels of both LDL cholesterol and triglycerides, although some may only have one or the other elevated. The disorder can present at any age, but it is often diagnosed in adulthood during routine cholesterol screening.

Treatment for Hyperlipoproteinemia Type II typically involves lifestyle modifications such as a heart-healthy diet, regular exercise, and weight loss. Medications such as statins, ezetimibe, and PCSK9 inhibitors may also be prescribed to lower LDL cholesterol levels and reduce the risk of cardiovascular disease.

Apolipoprotein E2 (ApoE2) is one of the three major isoforms of the apolipoprotein E (ApoE) protein, which is a component of lipoproteins that are involved in the transport and metabolism of cholesterol and other fats in the body. ApoE is produced by the APOE gene, which has three common alleles: ε2, ε3, and ε4.

The ApoE2 protein is encoded by the ε2 allele of the APOE gene. Compared to the other two isoforms (ApoE3 and ApoE4), ApoE2 has a different amino acid at position 112, where it has a cysteine instead of an arginine. This difference affects the protein's ability to interact with other molecules involved in lipid metabolism, such as the low-density lipoprotein receptor (LDLR).

Individuals who inherit two copies of the ε2 allele (ε2/ε2) have a higher risk of developing type III hyperlipoproteinemia, also known as dysbetalipoproteinemia, which is characterized by elevated levels of cholesterol and triglycerides in the blood due to impaired clearance of remnant lipoproteins. However, not all people with the ε2/ε2 genotype develop type III hyperlipoproteinemia, and other genetic and environmental factors may contribute to the development of this condition.

It's worth noting that having one or two copies of the ε2 allele has been associated with a reduced risk of developing Alzheimer's disease, although the mechanism by which ApoE2 protects against Alzheimer's is not fully understood.

VLDL (Very Low-Density Lipoproteins) are a type of lipoprotein that play a crucial role in the transport and metabolism of fat molecules, known as triglycerides, in the body. They are produced by the liver and consist of a core of triglycerides surrounded by a shell of proteins called apolipoproteins, phospholipids, and cholesterol.

VLDL particles are responsible for delivering fat molecules from the liver to peripheral tissues throughout the body, where they can be used as an energy source or stored for later use. During this process, VLDL particles lose triglycerides and acquire more cholesterol, transforming into intermediate-density lipoproteins (IDL) and eventually low-density lipoproteins (LDL), which are also known as "bad" cholesterol.

Elevated levels of VLDL in the blood can contribute to the development of cardiovascular disease due to their association with increased levels of triglycerides and LDL cholesterol, as well as decreased levels of high-density lipoproteins (HDL), which are considered "good" cholesterol.

Hyperlipidemias are a group of disorders characterized by an excess of lipids (fats) or lipoproteins in the blood. These include elevated levels of cholesterol, triglycerides, or both. Hyperlipidemias can be inherited (primary) or caused by other medical conditions (secondary). They are a significant risk factor for developing cardiovascular diseases, such as atherosclerosis and coronary artery disease.

There are two main types of lipids that are commonly measured in the blood: low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol, and high-density lipoprotein (HDL) cholesterol, known as "good" cholesterol. High levels of LDL cholesterol can lead to the formation of plaques in the arteries, which can narrow or block them and increase the risk of heart attack or stroke. On the other hand, high levels of HDL cholesterol are protective because they help remove LDL cholesterol from the bloodstream.

Triglycerides are another type of lipid that can be measured in the blood. Elevated triglyceride levels can also contribute to the development of cardiovascular disease, particularly when combined with high LDL cholesterol and low HDL cholesterol levels.

Hyperlipidemias are typically diagnosed through a blood test that measures the levels of various lipids and lipoproteins in the blood. Treatment may include lifestyle changes, such as following a healthy diet, getting regular exercise, losing weight, and quitting smoking, as well as medication to lower lipid levels if necessary.

Xanthomatosis is a medical term that refers to the condition characterized by the presence of xanthomas, which are yellowish, fat-laden deposits that form under the skin or in other tissues. These deposits consist of lipids, such as cholesterol and triglycerides, and immune cells called macrophages, which have engulfed the lipids.

Xanthomas can occur in various parts of the body, including the eyelids, tendons, joints, and other areas with connective tissue. They may appear as small papules or larger nodules, and their size and number can vary depending on the severity of the underlying disorder.

Xanthomatosis is often associated with genetic disorders that affect lipid metabolism, such as familial hypercholesterolemia, or with acquired conditions that cause high levels of lipids in the blood, such as diabetes, hypothyroidism, and certain liver diseases. Treatment typically involves addressing the underlying disorder and controlling lipid levels through dietary changes, medications, or a combination of both.

Apolipoprotein E (ApoE) is a protein involved in the metabolism of lipids, particularly cholesterol. It is produced primarily by the liver and is a component of several types of lipoproteins, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL).

ApoE plays a crucial role in the transport and uptake of lipids in the body. It binds to specific receptors on cell surfaces, facilitating the delivery of lipids to cells for energy metabolism or storage. ApoE also helps to clear cholesterol from the bloodstream and is involved in the repair and maintenance of tissues.

There are three major isoforms of ApoE, designated ApoE2, ApoE3, and ApoE4, which differ from each other by only a few amino acids. These genetic variations can have significant effects on an individual's risk for developing certain diseases, particularly cardiovascular disease and Alzheimer's disease. For example, individuals who inherit the ApoE4 allele have an increased risk of developing Alzheimer's disease, while those with the ApoE2 allele may have a reduced risk.

In summary, Apolipoprotein E is a protein involved in lipid metabolism and transport, and genetic variations in this protein can influence an individual's risk for certain diseases.

Triglycerides are the most common type of fat in the body, and they're found in the food we eat. They're carried in the bloodstream to provide energy to the cells in our body. High levels of triglycerides in the blood can increase the risk of heart disease, especially in combination with other risk factors such as high LDL (bad) cholesterol, low HDL (good) cholesterol, and high blood pressure.

It's important to note that while triglycerides are a type of fat, they should not be confused with cholesterol, which is a waxy substance found in the cells of our body. Both triglycerides and cholesterol are important for maintaining good health, but high levels of either can increase the risk of heart disease.

Triglyceride levels are measured through a blood test called a lipid panel or lipid profile. A normal triglyceride level is less than 150 mg/dL. Borderline-high levels range from 150 to 199 mg/dL, high levels range from 200 to 499 mg/dL, and very high levels are 500 mg/dL or higher.

Elevated triglycerides can be caused by various factors such as obesity, physical inactivity, excessive alcohol consumption, smoking, and certain medical conditions like diabetes, hypothyroidism, and kidney disease. Medications such as beta-blockers, steroids, and diuretics can also raise triglyceride levels.

Lifestyle changes such as losing weight, exercising regularly, eating a healthy diet low in saturated and trans fats, avoiding excessive alcohol consumption, and quitting smoking can help lower triglyceride levels. In some cases, medication may be necessary to reduce triglycerides to recommended levels.

Lipoproteins are complex particles composed of multiple proteins and lipids (fats) that play a crucial role in the transport and metabolism of fat molecules in the body. They consist of an outer shell of phospholipids, free cholesterols, and apolipoproteins, enclosing a core of triglycerides and cholesteryl esters.

There are several types of lipoproteins, including:

1. Chylomicrons: These are the largest lipoproteins and are responsible for transporting dietary lipids from the intestines to other parts of the body.
2. Very-low-density lipoproteins (VLDL): Produced by the liver, VLDL particles carry triglycerides to peripheral tissues for energy storage or use.
3. Low-density lipoproteins (LDL): Often referred to as "bad cholesterol," LDL particles transport cholesterol from the liver to cells throughout the body. High levels of LDL in the blood can lead to plaque buildup in artery walls and increase the risk of heart disease.
4. High-density lipoproteins (HDL): Known as "good cholesterol," HDL particles help remove excess cholesterol from cells and transport it back to the liver for excretion or recycling. Higher levels of HDL are associated with a lower risk of heart disease.

Understanding lipoproteins and their roles in the body is essential for assessing cardiovascular health and managing risks related to heart disease and stroke.

Apolipoprotein E3 (ApoE3) is one of the three major isoforms of apolipoprotein E (ApoE), a protein involved in the metabolism of lipids, particularly cholesterol. ApoE is produced by the APOE gene, which has three common alleles: ε2, ε3, and ε4. These alleles result in three main isoforms of the protein: ApoE2, ApoE3, and ApoE4.

ApoE3 is the most common isoform, found in approximately 77-78% of the population. It has a slightly different amino acid sequence compared to ApoE2 and ApoE4, which can affect its function. ApoE3 is thought to play a neutral or protective role in the risk of developing Alzheimer's disease and cardiovascular diseases, although some studies suggest that it may have a mildly favorable effect on lipid metabolism compared to ApoE4.

Familial Combined Hyperlipidemia (FCH) is a genetic disorder characterized by high levels of cholesterol and/or fats (lipids) in the blood. It is one of the most common inherited lipid disorders, affecting approximately 1 in 200 to 1 in 500 people.

FCH is caused by mutations in several genes involved in lipid metabolism, including the APOB, LDLR, and PCSK9 genes. These genetic defects lead to increased levels of low-density lipoprotein (LDL) cholesterol, triglycerides, or both in the blood.

Individuals with FCH may have elevated levels of total cholesterol, LDL cholesterol, and/or triglycerides, which can increase their risk for premature atherosclerosis and cardiovascular disease. The condition often presents in early adulthood and may manifest as mixed hyperlipidemia (high levels of both LDL cholesterol and triglycerides) or isolated hypercholesterolemia (high levels of LDL cholesterol only).

Familial combined hyperlipidemia is typically managed with lifestyle modifications, such as a heart-healthy diet, regular exercise, and weight management. Medications, such as statins, may also be prescribed to lower lipid levels and reduce the risk of cardiovascular disease. Regular monitoring of lipid levels is essential for effective management and prevention of complications associated with FCH.

Cholesterol is a type of lipid (fat) molecule that is an essential component of cell membranes and is also used to make certain hormones and vitamins in the body. It is produced by the liver and is also obtained from animal-derived foods such as meat, dairy products, and eggs.

Cholesterol does not mix with blood, so it is transported through the bloodstream by lipoproteins, which are particles made up of both lipids and proteins. There are two main types of lipoproteins that carry cholesterol: low-density lipoproteins (LDL), also known as "bad" cholesterol, and high-density lipoproteins (HDL), also known as "good" cholesterol.

High levels of LDL cholesterol in the blood can lead to a buildup of cholesterol in the walls of the arteries, increasing the risk of heart disease and stroke. On the other hand, high levels of HDL cholesterol are associated with a lower risk of these conditions because HDL helps remove LDL cholesterol from the bloodstream and transport it back to the liver for disposal.

It is important to maintain healthy levels of cholesterol through a balanced diet, regular exercise, and sometimes medication if necessary. Regular screening is also recommended to monitor cholesterol levels and prevent health complications.

Lipoprotein lipase (LPL) is an enzyme that plays a crucial role in the metabolism of lipids. It is responsible for breaking down triglycerides, which are the main constituent of dietary fats and chylomicrons, into fatty acids and glycerol. These products are then taken up by cells for energy production or storage.

LPL is synthesized in various tissues, including muscle and fat, where it is attached to the inner lining of blood vessels (endothelium). The enzyme is activated when it comes into contact with lipoprotein particles, such as chylomicrons and very-low-density lipoproteins (VLDL), which transport triglycerides in the bloodstream.

Deficiencies or mutations in LPL can lead to various metabolic disorders, including hypertriglyceridemia, a condition characterized by high levels of triglycerides in the blood. Conversely, overexpression of LPL has been associated with increased risk of atherosclerosis due to excessive uptake of fatty acids by macrophages and their conversion into foam cells, which contribute to plaque formation in the arteries.

Apolipoproteins are a group of proteins that are associated with lipids (fats) in the body and play a crucial role in the metabolism, transportation, and regulation of lipids. They are structural components of lipoprotein particles, which are complexes of lipids and proteins that transport lipids in the bloodstream.

There are several types of apolipoproteins, including ApoA, ApoB, ApoC, ApoD, ApoE, and others. Each type has a specific function in lipid metabolism. For example, ApoA is a major component of high-density lipoprotein (HDL), often referred to as "good cholesterol," and helps remove excess cholesterol from cells and tissues and transport it to the liver for excretion. ApoB, on the other hand, is a major component of low-density lipoprotein (LDL), or "bad cholesterol," and plays a role in the delivery of cholesterol to cells and tissues.

Abnormal levels of apolipoproteins or dysfunctional forms of these proteins have been linked to various diseases, including cardiovascular disease, Alzheimer's disease, and metabolic disorders such as diabetes. Therefore, measuring apolipoprotein levels in the blood can provide valuable information for diagnosing and monitoring these conditions.

Low-density lipoproteins (LDL), also known as "bad cholesterol," are a type of lipoprotein that carry cholesterol and other fats from the liver to cells throughout the body. High levels of LDL in the blood can lead to the buildup of cholesterol in the walls of the arteries, which can increase the risk of heart disease and stroke.

Lipoproteins are complex particles composed of proteins (apolipoproteins) and lipids (cholesterol, triglycerides, and phospholipids) that are responsible for transporting fat molecules around the body in the bloodstream. LDL is one type of lipoprotein, along with high-density lipoproteins (HDL), very low-density lipoproteins (VLDL), and chylomicrons.

LDL particles are smaller than HDL particles and can easily penetrate the artery walls, leading to the formation of plaques that can narrow or block the arteries. Therefore, maintaining healthy levels of LDL in the blood is essential for preventing cardiovascular disease.

Chylomicrons are a type of lipoprotein that are responsible for carrying dietary lipids, such as triglycerides and cholesterol, from the intestines to other parts of the body through the lymphatic system and bloodstream. They are the largest lipoproteins and are composed of an outer layer of phospholipids, free cholesterol, and apolipoproteins, which surrounds a core of triglycerides and cholesteryl esters. Chylomicrons are produced in the intestinal mucosa after a meal containing fat, and their production is stimulated by the hormone cholecystokinin. Once in the bloodstream, chylomicrons interact with other lipoproteins and enzymes to deliver their lipid cargo to various tissues, including muscle and adipose tissue, where they are used for energy or stored for later use.

Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.

In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.

It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.

Apolipoprotein C (apoC) is a group of proteins that are associated with lipoproteins, which are complex particles composed of lipids and proteins that play a crucial role in the transport and metabolism of lipids in the body. There are three main types of apoC proteins: apoC-I, apoC-II, and apoC-III.

ApoC-I is involved in the regulation of lipoprotein metabolism and has been shown to inhibit the activity of cholesteryl ester transfer protein (CETP), which is an enzyme that facilitates the transfer of cholesteryl esters from high-density lipoproteins (HDL) to low-density lipoproteins (LDL) and very low-density lipoproteins (VLDL).

ApoC-II is a cofactor for lipoprotein lipase, an enzyme that hydrolyzes triglycerides in chylomicrons and VLDL, leading to the formation of smaller, denser lipoproteins. A deficiency in apoC-II can lead to hypertriglyceridemia, a condition characterized by elevated levels of triglycerides in the blood.

ApoC-III is also involved in the regulation of lipoprotein metabolism and has been shown to inhibit the activity of lipoprotein lipase and CETP. Elevated levels of apoC-III have been associated with an increased risk of cardiovascular disease, possibly due to its effects on lipoprotein metabolism.

In summary, apolipoprotein C is a group of proteins that are involved in the regulation of lipoprotein metabolism and have important roles in the transport and metabolism of lipids in the body.

VLDL, or very low-density lipoproteins, are a type of lipoprotein that carries triglycerides and cholesterol from the liver to other parts of the body. Cholesterol is a fatty substance found in the blood, and VLDL contains both triglycerides and cholesterol.

Cholesterol itself cannot dissolve in the blood and needs to be transported around the body by lipoproteins, which are protein molecules that encapsulate and carry fat molecules, such as cholesterol and triglycerides, through the bloodstream. VLDL is one of several types of lipoproteins, including low-density lipoproteins (LDL) and high-density lipoproteins (HDL).

Elevated levels of VLDL in the blood can contribute to the development of atherosclerosis, a condition characterized by the buildup of plaque in the arteries, which can increase the risk of heart disease and stroke. Therefore, maintaining healthy levels of VLDL and other lipoproteins is an important part of overall cardiovascular health.

LDL receptors (Low-Density Lipoprotein Receptors) are cell surface receptors that play a crucial role in the regulation of cholesterol homeostasis within the body. They are responsible for recognizing and binding to LDL particles, also known as "bad cholesterol," which are then internalized by the cell through endocytosis.

Once inside the cell, the LDL particles are broken down, releasing their cholesterol content, which can be used for various cellular processes such as membrane synthesis and hormone production. The LDL receptors themselves are recycled back to the cell surface, allowing for continued uptake of LDL particles.

Mutations in the LDL receptor gene can lead to a condition called familial hypercholesterolemia, which is characterized by high levels of LDL cholesterol in the blood and an increased risk of premature cardiovascular disease.

Apolipoprotein C-II (ApoC-II) is a type of apolipoprotein, which are proteins that bind to lipids to form lipoprotein complexes. ApoC-II is a component of several lipoproteins, including very low-density lipoproteins (VLDL) and chylomicrons, which are responsible for the transport of fat molecules, such as triglycerides and cholesterol, in the bloodstream.

ApoC-II plays a crucial role in the activation of lipoprotein lipase, an enzyme that breaks down triglycerides in VLDL and chylomicrons into fatty acids, which can then be taken up by cells for energy production or storage. Therefore, ApoC-II deficiency can lead to hypertriglyceridemia, a condition characterized by high levels of triglycerides in the blood.

In addition to its role in lipid metabolism, ApoC-II has been implicated in the development and progression of atherosclerosis, a chronic inflammatory disease that affects the arteries and can lead to serious cardiovascular complications, such as heart attack and stroke.

Paper electrophoresis is a laboratory technique used to separate and analyze mixtures of charged particles, such as proteins or nucleic acids (DNA or RNA), based on their differing rates of migration in an electric field. In this method, the sample is applied to a strip of paper, usually made of cellulose, which is then placed in a bath of electrophoresis buffer.

An electric current is applied across the bath, creating an electric field that causes the charged particles in the sample to migrate along the length of the paper. The rate of migration depends on the charge and size of the particle: more highly charged particles move faster, while larger particles move more slowly. This allows for the separation of the individual components of the mixture based on their electrophoretic mobility.

After the electrophoresis is complete, the separated components can be visualized using various staining techniques, such as protein stains for proteins or dyes specific to nucleic acids. The resulting pattern of bands can then be analyzed to identify and quantify the individual components in the mixture.

Paper electrophoresis has been largely replaced by other methods, such as slab gel electrophoresis, due to its lower resolution and limited separation capabilities. However, it is still used in some applications where a simple, rapid, and low-cost method is desired.

Gemfibrozil is a medication that belongs to a class of drugs called fibrates. It is primarily used to lower elevated levels of triglycerides (a type of fat found in the blood) and increase levels of "good" cholesterol (HDL-C) in the blood.

Gemfibrozil works by reducing the production of triglycerides in the body, increasing the breakdown of fats in the liver, and improving the way the body handles fats and sugar. It is often prescribed for people with high triglyceride levels who are at risk for pancreatitis (inflammation of the pancreas) or those who have not responded well to other cholesterol-lowering medications, such as statins.

It's important to note that while gemfibrozil can help manage triglyceride and cholesterol levels, it is not a substitute for a healthy lifestyle. Regular exercise, a balanced diet, limiting alcohol consumption, and avoiding smoking are all crucial components of maintaining good cardiovascular health.

As with any medication, gemfibrozil should be taken under the supervision of a healthcare provider, who can monitor its effectiveness and potential side effects. Common side effects of gemfibrozil include stomach pain, diarrhea, and muscle or joint pain. Rare but serious side effects may include liver damage, kidney problems, and an increased risk of gallstones.

Chenodeoxycholic acid (CDCA) is a bile acid that is naturally produced in the human body. It is formed in the liver from cholesterol and is then conjugated with glycine or taurine to become a primary bile acid. CDCA is stored in the gallbladder and released into the small intestine during digestion, where it helps to emulsify fats and facilitate their absorption.

CDCA also has important regulatory functions in the body, including acting as a signaling molecule that binds to specific receptors in the liver, intestines, and other tissues. It plays a role in glucose and lipid metabolism, inflammation, and cell growth and differentiation.

In addition to its natural functions, CDCA is also used as a medication for the treatment of certain medical conditions. For example, it is used to dissolve gallstones that are composed of cholesterol, and it is also used to treat a rare genetic disorder called cerebrotendinous xanthomatosis (CTX), which is characterized by the accumulation of CDCA and other bile acids in various tissues.

It's important to note that while CDCA has therapeutic uses, it can also have adverse effects if taken in high doses or for extended periods of time. Therefore, it should only be used under the supervision of a healthcare professional.

Cholic acids are a type of bile acid, which are naturally occurring steroid acids that play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the body. Cholic acid is the primary bile acid synthesized in the liver from cholesterol. It is then conjugated with glycine or taurine to form conjugated cholic acids, which are stored in the gallbladder and released into the small intestine during digestion to aid in fat emulsification and absorption.

Cholic acid and its derivatives have also been studied for their potential therapeutic benefits in various medical conditions, including liver diseases, gallstones, and bacterial infections. However, more research is needed to fully understand the mechanisms of action and potential side effects of cholic acids and their derivatives before they can be widely used as therapeutic agents.

Interferon type I is a class of signaling proteins, also known as cytokines, that are produced and released by cells in response to the presence of pathogens such as viruses, bacteria, and parasites. These interferons play a crucial role in the body's innate immune system and help to establish an antiviral state in surrounding cells to prevent the spread of infection.

Interferon type I includes several subtypes, such as interferon-alpha (IFN-α), interferon-beta (IFN-β), and interferon-omega (IFN-ω). When produced, these interferons bind to specific receptors on the surface of nearby cells, triggering a cascade of intracellular signaling events that lead to the activation of genes involved in the antiviral response.

The activation of these genes results in the production of enzymes that inhibit viral replication and promote the destruction of infected cells. Interferon type I also enhances the adaptive immune response by promoting the activation and proliferation of immune cells such as T-cells and natural killer (NK) cells, which can directly target and eliminate infected cells.

Overall, interferon type I plays a critical role in the body's defense against viral infections and is an important component of the immune response to many different types of pathogens.

Hypertriglyceridemia is a medical condition characterized by an elevated level of triglycerides in the blood. Triglycerides are a type of fat (lipid) found in your blood that can increase the risk of developing heart disease, especially when levels are very high.

In general, hypertriglyceridemia is defined as having triglyceride levels greater than 150 milligrams per deciliter (mg/dL) of blood. However, the specific definition of hypertriglyceridemia may vary depending on individual risk factors and medical history.

Hypertriglyceridemia can be caused by a variety of factors, including genetics, obesity, physical inactivity, excessive alcohol consumption, and certain medications. In some cases, it may also be a secondary consequence of other medical conditions such as diabetes or hypothyroidism. Treatment for hypertriglyceridemia typically involves lifestyle modifications such as dietary changes, increased exercise, and weight loss, as well as medication if necessary.

High-Density Lipoproteins (HDL) are a type of lipoprotein that play a crucial role in the transportation and metabolism of cholesterol in the body. They are often referred to as "good" cholesterol because they help remove excess cholesterol from cells and carry it back to the liver, where it can be broken down and removed from the body. This process is known as reverse cholesterol transport.

HDLs are composed of a lipid core containing cholesteryl esters and triglycerides, surrounded by a shell of phospholipids, free cholesterol, and apolipoproteins, primarily apoA-I. The size and composition of HDL particles can vary, leading to the classification of different subclasses of HDL with varying functions and metabolic fates.

Elevated levels of HDL have been associated with a lower risk of developing cardiovascular diseases, while low HDL levels increase the risk. However, it is essential to consider that HDL function and quality may be more important than just the quantity in determining cardiovascular risk.

Ultracentrifugation is a medical and laboratory technique used for the separation of particles of different sizes, densities, or shapes from a mixture based on their sedimentation rates. This process involves the use of a specialized piece of equipment called an ultracentrifuge, which can generate very high centrifugal forces, much greater than those produced by a regular centrifuge.

In ultracentrifugation, a sample is placed in a special tube and spun at extremely high speeds, causing the particles within the sample to separate based on their size, shape, and density. The larger or denser particles will sediment faster and accumulate at the bottom of the tube, while smaller or less dense particles will remain suspended in the solution or sediment more slowly.

Ultracentrifugation is a valuable tool in various fields, including biochemistry, molecular biology, and virology. It can be used to purify and concentrate viruses, subcellular organelles, membrane fractions, ribosomes, DNA, and other macromolecules from complex mixtures. The technique can also provide information about the size, shape, and density of these particles, making it a crucial method for characterizing and studying their properties.

Heparin is defined as a highly sulfated glycosaminoglycan (a type of polysaccharide) that is widely present in many tissues, but is most commonly derived from the mucosal tissues of mammalian lungs or intestinal mucosa. It is an anticoagulant that acts as an inhibitor of several enzymes involved in the blood coagulation cascade, primarily by activating antithrombin III which then neutralizes thrombin and other clotting factors.

Heparin is used medically to prevent and treat thromboembolic disorders such as deep vein thrombosis, pulmonary embolism, and certain types of heart attacks. It can also be used during hemodialysis, cardiac bypass surgery, and other medical procedures to prevent the formation of blood clots.

It's important to note that while heparin is a powerful anticoagulant, it does not have any fibrinolytic activity, meaning it cannot dissolve existing blood clots. Instead, it prevents new clots from forming and stops existing clots from growing larger.

Lipids are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. They include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E, and K), monoglycerides, diglycerides, triglycerides, and phospholipids. Lipids serve many important functions in the body, including energy storage, acting as structural components of cell membranes, and serving as signaling molecules. High levels of certain lipids, particularly cholesterol and triglycerides, in the blood are associated with an increased risk of cardiovascular disease.

Apolipoprotein C-III (APOC3) is a protein that is produced in the liver and circulates in the bloodstream. It is a component of certain lipoproteins, including very low-density lipoproteins (VLDL) and chylomicrons, which are responsible for transporting fat molecules, such as triglycerides and cholesterol, throughout the body.

APOC3 plays a role in regulating the metabolism of these lipoproteins. Specifically, it inhibits the activity of an enzyme called lipoprotein lipase, which breaks down triglycerides in VLDL and chylomicrons. As a result, high levels of APOC3 can lead to an increase in triglyceride levels in the blood, which is a risk factor for cardiovascular disease.

Genetic variations in the APOC3 gene have been associated with differences in triglyceride levels and risk of cardiovascular disease. Some studies have suggested that reducing APOC3 levels through genetic editing or other means may be a promising strategy for lowering triglycerides and reducing the risk of heart disease.

Lipase is an enzyme that is produced by the pancreas and found in the digestive system of most organisms. Its primary function is to catalyze the hydrolysis of fats (triglycerides) into smaller molecules, such as fatty acids and glycerol, which can then be absorbed by the intestines and utilized for energy or stored for later use.

In medical terms, lipase levels in the blood are often measured to diagnose or monitor conditions that affect the pancreas, such as pancreatitis (inflammation of the pancreas), pancreatic cancer, or cystic fibrosis. Elevated lipase levels may indicate damage to the pancreas and its ability to produce digestive enzymes.

Dietary cholesterol is a type of cholesterol that comes from the foods we eat. It is present in animal-derived products such as meat, poultry, dairy products, and eggs. While dietary cholesterol can contribute to an increase in blood cholesterol levels for some people, it's important to note that saturated and trans fats have a more significant impact on blood cholesterol levels than dietary cholesterol itself.

The American Heart Association recommends limiting dietary cholesterol intake to less than 300 milligrams per day for most people, and less than 200 milligrams per day for those with a history of heart disease or high cholesterol levels. However, individual responses to dietary cholesterol can vary, so it's essential to monitor blood cholesterol levels and adjust dietary habits accordingly.

Electrophoresis, Agar Gel is a laboratory technique used to separate and analyze DNA, RNA, or proteins based on their size and electrical charge. In this method, the sample is mixed with agarose gel, a gelatinous substance derived from seaweed, and then solidified in a horizontal slab-like format. An electric field is applied to the gel, causing the negatively charged DNA or RNA molecules to migrate towards the positive electrode. The smaller molecules move faster through the gel than the larger ones, resulting in their separation based on size. This technique is widely used in molecular biology and genetics research, as well as in diagnostic testing for various genetic disorders.

Isoelectric focusing (IEF) is a technique used in electrophoresis, which is a method for separating proteins or other molecules based on their electrical charges. In IEF, a mixture of ampholytes (molecules that can carry both positive and negative charges) is used to create a pH gradient within a gel matrix. When an electric field is applied, the proteins or molecules migrate through the gel until they reach the point in the gradient where their net charge is zero, known as their isoelectric point (pI). At this point, they focus into a sharp band and stop moving, resulting in a highly resolved separation of the different components based on their pI. This technique is widely used in protein research for applications such as protein identification, characterization, and purification.

Collagen Type I is the most abundant form of collagen in the human body, found in various connective tissues such as tendons, ligaments, skin, and bones. It is a structural protein that provides strength and integrity to these tissues. Collagen Type I is composed of three alpha chains, two alpha-1(I) chains, and one alpha-2(I) chain, arranged in a triple helix structure. This type of collagen is often used in medical research and clinical applications, such as tissue engineering and regenerative medicine, due to its excellent mechanical properties and biocompatibility.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Electrophoresis is a laboratory technique used in the field of molecular biology and chemistry to separate charged particles, such as DNA, RNA, or proteins, based on their size and charge. This technique uses an electric field to drive the movement of these charged particles through a medium, such as gel or liquid.

In electrophoresis, the sample containing the particles to be separated is placed in a matrix, such as a gel or a capillary tube, and an electric current is applied. The particles in the sample have a net charge, either positive or negative, which causes them to move through the matrix towards the oppositely charged electrode.

The rate at which the particles move through the matrix depends on their size and charge. Larger particles move more slowly than smaller ones, and particles with a higher charge-to-mass ratio move faster than those with a lower charge-to-mass ratio. By comparing the distance that each particle travels in the matrix, researchers can identify and quantify the different components of a mixture.

Electrophoresis has many applications in molecular biology and medicine, including DNA sequencing, genetic fingerprinting, protein analysis, and diagnosis of genetic disorders.

Apolipoprotein B (ApoB) is a type of protein that plays a crucial role in the metabolism of lipids, particularly low-density lipoprotein (LDL) or "bad" cholesterol. ApoB is a component of LDL particles and serves as a ligand for the LDL receptor, which is responsible for the clearance of LDL from the bloodstream.

There are two main forms of ApoB: ApoB-100 and ApoB-48. ApoB-100 is found in LDL particles, very low-density lipoprotein (VLDL) particles, and chylomicrons, while ApoB-48 is only found in chylomicrons, which are produced in the intestines and responsible for transporting dietary lipids.

Elevated levels of ApoB are associated with an increased risk of cardiovascular disease (CVD), as they indicate a higher concentration of LDL particles in the bloodstream. Therefore, measuring ApoB levels can provide additional information about CVD risk beyond traditional lipid profile tests that only measure total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.

Apoproteins are the protein components of lipoprotein complexes, which are responsible for transporting fat molecules, such as cholesterol and triglycerides, throughout the body. Apoproteins play a crucial role in the metabolism of lipids by acting as recognition signals that allow lipoproteins to interact with specific receptors on cell surfaces.

There are several different types of apoproteins, each with distinct functions. For example, apolipoprotein A-1 (apoA-1) is the major protein component of high-density lipoproteins (HDL), which are responsible for transporting excess cholesterol from tissues to the liver for excretion. Apolipoprotein B (apoB) is a large apoprotein found in low-density lipoproteins (LDL), very low-density lipoproteins (VLDL), and lipoprotein(a). ApoB plays a critical role in the assembly and secretion of VLDL from the liver, and it also mediates the uptake of LDL by cells.

Abnormalities in apoprotein levels or function can contribute to the development of various diseases, including cardiovascular disease, diabetes, and Alzheimer's disease. Therefore, measuring apoprotein levels in the blood can provide valuable information for diagnosing and monitoring these conditions.

Hypercholesterolemia is a medical term that describes a condition characterized by high levels of cholesterol in the blood. Specifically, it refers to an abnormally elevated level of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, which can contribute to the development of fatty deposits in the arteries called plaques. Over time, these plaques can narrow and harden the arteries, leading to atherosclerosis, a condition that increases the risk of heart disease, stroke, and other cardiovascular complications.

Hypercholesterolemia can be caused by various factors, including genetics, lifestyle choices, and underlying medical conditions. In some cases, it may not cause any symptoms until serious complications arise. Therefore, regular cholesterol screening is essential for early detection and management of hypercholesterolemia. Treatment typically involves lifestyle modifications, such as a healthy diet, regular exercise, and weight management, along with medication if necessary.

Xanthomas are one of types of skin lesions that may occur in this situation. Other systemic conditions may also occur with ...
Feussner G, Feussner V, Hoffmann MM, Lohrmann J, Wieland H, März W (1998). "Molecular basis of type III hyperlipoproteinemia in ... Defects in APOE result in familial dysbetalipoproteinemia aka type III hyperlipoproteinemia (HLP III), in which increased ... December 1996). "Apo E variants in patients with type III hyperlipoproteinemia". Atherosclerosis. 127 (2): 273-282. doi:10.1016 ... September 1992). "Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia". Biochimica et Biophysica Acta. 1128 (1 ...
Hyperlipoproteinemia type V, also known as mixed hyperlipoproteinemia familial or mixed hyperlipidemia, is very similar to type ... Hyperlipoproteinemia type II is further classified into types IIa and IIb, depending mainly on whether elevation in the ... Type I hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency (type Ia), due to a deficiency of ... type Ic) Type I hyperlipoproteinemia usually presents in childhood with eruptive xanthomata and abdominal colic. Complications ...
Hyperchylomicronemia or hyperlipoproteinemia is a type of inherited hyperlipidemia in cats. Polyneuropathy is caused by ... The most common type is Coonhound paralysis. This is similar to Guillain-Barré syndrome in humans. Coonhound paralysis seems to ... "Natural Clostridium botulinum Type C Toxicosis in a Group of Cats". J Clin Microbiol. 42 (11): 5406-8. doi:10.1128/JCM.42.11. ...
Online Mendelian Inheritance in Man (OMIM): HYPERLIPOPROTEINEMIA, TYPE I - 238600, updated 03/18/2004. As of October 2012, ... Primary hyperlipoproteinemia Familial apoprotein CII deficiency List of cutaneous conditions Santamarina-Fojo, S (1998). " ... mention of type Ia no longer appears in the OMIM record. "Familial lipoprotein lipase deficiency: MedlinePlus Medical ...
... it shows as a hyperlipoproteinemia type IIB. It is the most commonly inherited lipid disorder, occurring in around one in 200 ... incorporating diabetes mellitus type II, hypertension, central obesity and CH). Excessive free fatty acid production by various ...
Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia". Human ... 1996). "Genetic association study between senile dementia of Alzheimer's type and APOE/C1/C2 gene cluster". Gerontology. 42 ...
R.. (1995). ""Essential" phospholipids versus nicotinic acid in the treatment of patients with type IIb hyperlipoproteinemia ...
They occur in hyperlipoproteinaemia type III and type IIA, and in association with biliary cirrhosis. The presence of palmar ... Other types of xanthoma identified in the Medical Dictionary include: Xanthoma diabeticorum: a type of eruptive xanthoma, often ... Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia.[citation needed] The ... They are associated with hyperlipidemias, both primary and secondary types.[citation needed] Tendon xanthomas are associated ...
Mutations in this gene cause hyperlipoproteinemia type IB, characterized by xanthomas, pancreatitis, and hepatosplenomegaly, ...
... or type III hyperlipoproteinemia is a condition characterized by increased total cholesterol ... Primary hyperlipoproteinemia Apolipoprotein B deficiency List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; ...
People who carry two copies of the ApoE ε2 allele are at risk for a condition that is known as hyperlipoproteinemia type III. ... Doses as low as ~0.2 Gy of 56Fe-ions appear to have an effect on CTA." The RBE of different types of heavy particles on CNS ... The relative effectiveness of different radiation types in producing emesis was studied in ferrets and is illustrated in figure ... particle types, and, eventually, astronauts. Studies on rats were performed using the Morris water maze test 1 month after ...
Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are ...
... multiple-type hyperlipoproteinemia) Familial defective apolipoprotein B-100 Familial dysbetalipoproteinemia (broad beta disease ... Neurofibromatosis type 3 (neurofibromatosis mixed type) Neurofibromatosis type 4 (neurofibromatosis variant type) Neutral lipid ... mucopolysaccharidosis type VI) Medication-induced hyperlipoproteinemia Metastatic calcinosis cutis Milia-like calcinosis ... Ferguson-Smith type of multiple self-healing keratoacanthomas, multiple keratoacanthomas of the Ferguson-Smith type) Multiple ...
Septic arthritis Type IIa hyperlipoproteinemia Amyloidosis Multicentric reticulohistiocytosis Hyperparathyroidism ...
A pattern compatible with hyperlipoproteinemia type IIa on the Fredrickson classification is typically found: raised level of ... FH is classified as a type 2 familial dyslipidemia. There are five types of familial dyslipidemia (not including subtypes), and ... For example, high LDL (often due to LDL receptor defect) is type 2. Others include defects in chylomicron metabolism, ... Mutations in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene were linked to autosomal dominant (i.e. requiring ...
... hyperlipoproteinemia type IV MeSH C18.452.339.750.495 - hyperlipoproteinemia type V MeSH C18.452.339.750.552 - lipoprotein ... hyperlipoproteinemia type IV MeSH C18.452.648.556.484 - hyperlipoproteinemia type III MeSH C18.452.648.556.490 - ... hyperlipoproteinemia type IV MeSH C18.452.648.556.495 - hyperlipoproteinemia type V MeSH C18.452.648.556.500 - ... hyperlipoproteinemia type IV MeSH C18.452.339.500.851 - hypertriglyceridemia MeSH C18.452.339.750 - hyperlipoproteinemia MeSH ...
... a Japanese aircraft machine gun of World War II Hyperlipoproteinemia type III, a risk factor for cardiovascular disease Nitric ... Type III or Type 3 may refer to: Type 3 Chi-Nu, a Japanese medium tank Type 3 mine, a Japanese land mine 8 cm/40 3rd Year Type ... a way to classify civilizations British Railways Type 3 Diesel locomotives The Volkswagen Type 3 Peugeot Type 3 The IBM Type- ... R-Type III: The Third Lightning, a video game IEC Type III, one of the four "type" classifications of audio cassette ...
For example, familial hypercholesterolemia (Type IIa hyperlipoproteinemia) may be associated with xanthelasma palpebrarum ( ... Type III hyperlipidemia may be associated with xanthomata of the palms, knees and elbows. Hypercholesterolemia is typically due ... Once lipid-lowering therapy is initiated, people with type 2 diabetes mellitus should be taking at least moderate doses of a ... For those people with type 2 diabetes who are taking statins, routine monitoring of liver function tests or muscle enzymes is ...
... essential Fredrickson Type IV hyperlipoproteinemia 272.2 Hyperlipidemia, mixed Fredrickson Type IIb or III hyperlipoproteinemia ... Diabetes mellitus type 2 (250.x1) Diabetes mellitus type 1 (250.x2) Diabetes mellitus type 2, uncontrolled (250.x3) Diabetes ... xanthoma Xanthoma tuberosum 272.3 Hyperchylomicronemia Bürger-Grütz syndrome Fredrickson type I or V hyperlipoproteinemia ... and metabolism 272 Disorders of lipoid metabolism 272.0 Pure hypercholesterolemia Fredrickson Type IIa hyperlipoproteinemia ...
Familial hyperlipoproteinemia type I Familial hyperlipoproteinemia type III Familial hyperlipoproteinemia type IV Familial ... syndrome Fox-Fordyce disease Fragile X syndrome Fragile X syndrome type 1 Fragile X syndrome type 2 Fragile X syndrome type 3 ... Familial visceral myopathy Familial wilms tumor 2 Fan death Fanconi anemia type 1 Fanconi anemia type 2 Fanconi anemia type 3 ... Fucosidosis type 1 Fucosidosis Fugue state Fuhrmann-Rieger-De Sousa syndrome Fukuda-Miyanomae-Nakata syndrome Fukuyama-type ...
... also known as type I hyperlipoproteinaemia) is an inherited disease where people have abnormally high levels of some types of ... Volanesorsen, is an 'antisense oligonucleotide,' a very short piece of synthetic RNA (a type of genetic material). It has been ... Lowering of Plasma Apolipoprotein C-III by Volanesorsen Improves Dyslipidemia and Insulin Sensitivity in Type 2 Diabetes". ...
Mitral stenosis is uncommon and not as age-dependent as other types of valvular disease. Mitral insufficiency can be caused by ... Hypertension, diabetes mellitus, hyperlipoproteinemia and uremia may speed up the process of valvular calcification. Heart ... Auscultation may reveal a systolic murmur of a harsh crescendo-decrescendo type, heard in 2nd right intercostal space and ... Osteogenesis imperfecta is a disorder in formation of type I collagen and can also lead to chronic aortic regurgitation. ...
There are two types of centre-surround structures in the retina - on-centres and off-centres. On-centres have a positively ... of the eye Duplex retina Retinal scan Retinal vein occlusion List of xanthoma variants associated with hyperlipoproteinemia ... Although each cell type differentiates from the RPCs in a sequential order, there is considerable overlap in the timing of when ... A third type of light-sensing cell, the photosensitive ganglion cell, is important for entrainment of circadian rhythms and ...
An example of such test is a genetic test to find an underlying mutation in certain types of hereditary colon cancer. AIDS ... the palmar xanthomata seen on the hands of people suffering from hyperlipoproteinemia, Negri bodies within brain tissue ...
CCM1 Hyperlipoproteinemia, type Ib; 207750; APOC2 Hyperlysinemia; 238700; AASS Hypermethioninemia, persistent, autosomal ... type 1B; 276900; MYO7A Usher syndrome, type 1C; 276904; USH1C Usher syndrome, type 1D; 601067; CDH23 Usher syndrome, type 1D/F ... type I; 125850; HNF4A MODY, type II; 125851; GCK MODY, type III; 600496; HNF1A MODY, type IV; 606392; IPF1 Mohr-Tranebjærg ... type 1F; 602083; PCDH15 Usher syndrome, type 1G; 606943; SANS Usher syndrome, type 2A; 276901; USH2A Usher syndrome, type 3; ...
The metabolic syndrome quintuples the risk of type 2 diabetes mellitus. Type 2 diabetes is considered a complication of ... Singer P (May 1977). "[Diagnosis of primary hyperlipoproteinemias]". Zeitschrift für die Gesamte Innere Medizin und Ihre ... HPA-axis dysfunction may explain the reported risk indication of abdominal obesity to cardiovascular disease (CVD), type 2 ... Metabolic syndrome can lead to several serious and chronic complications, including type-2 diabetes, cardiovascular diseases, ...
One way is its presentation in the body (including the specific type of lipid that is increased). The other way is due to the ... A system for phenotyping hyperlipoproteinemia. Circulation 1965;31:321-327. Vijan, Sandeep (February 28, 2020). "Screening for ... but not in patients with Type 2 diabetes). PCSK9 inhibitors are monoclonal antibodies that target an important protein in the ... "Effects of long-term fenofibrate therapy on cardiovascular events in 9795 people with type 2 diabetes mellitus (the FIELD study ...
Hyperlipoproteinemia is elevated levels of lipoproteins. Hypercholesterolemia is the presence of high levels of cholesterol in ... They are mostly transported in a phospholipid capsule, and the type of protein embedded in this outer shell determines the fate ... where some types favour transport towards body tissues and others towards the liver for excretion into the intestines. The 1987 ...
The phenotypes include types I, IIa, IIb, III, IV, and V dyslipidemias. Familial hypertriglyceridemia is considered a type IV ... Primary hyperlipoproteinemia Familial apoprotein CII deficiency Skin lesion Ripatti P, Rämö JT, Mars NJ, Fu Y, Lin J, Söderlund ... Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing ... 1 November 2009). "A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by ...
... type III hyperlipoproteinemia (HLP) having the apolipoprotein (apo) E2/2 phenotype were studied to determine the occurrence of ... Genetics of type III hyperlipoproteinemia G Feussner 1 , S Piesch, J Dobmeyer, C Fischer ... Genetics of type III hyperlipoproteinemia G Feussner et al. Genet Epidemiol. 1997. ... Genetics of hyperlipoproteinemia type III. Utermann G, Vogelberg KH, Steinmetz A, Schoenborn W, Pruin N, Jaeschke M, Hees M, ...
Home / Products tagged "Type III hyperlipoproteinemia". Type III hyperlipoproteinemia. Showing the single result ...
Type I hyperlipoproteinemia (pure hyperchylomicronemia). To make a definitive diagnosis of type I hyperlipidemia, a deficiency ... Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal metabolism. Scriver ... Feussner G, Piesch S, Dobmeyer J, Fischer C. Genetics of type III hyperlipoproteinemia. Genet Epidemiol. 1997. 14(3):283-97. [ ... Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J Lipid Res. 1999 ...
Hyperlipoproteinemia Type IIa (Elevated LDL) and Hyperlipoproteinemia Type IIb (Elevated LDL + VLDL); plus renal, liver and ... Usual Adult Dose for Hyperlipoproteinemia Type IIb (Elevated LDL + VLDL). Initial: 20 mg-500 mg orally once daily at bedtime. ... Usual Adult Dose for Hyperlipoproteinemia Type IIa (Elevated LDL). Initial: 20 mg-500 mg orally once daily at bedtime. ... Usual Adult Dose for Hyperlipoproteinemia. Initial: 20 mg-500 mg orally once daily at bedtime. Maintenance: 20 mg-500 mg to 40 ...
Xanthomas are one of types of skin lesions that may occur in this situation. Other systemic conditions may also occur with ...
14.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) 14.5 Homozygous Familial Hypercholesterolemia 14.6 ... 1.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia). CRESTOR is indicated as an adjunct to diet for the ... adult patients with primary dysbetalipoproteinemia (Type III hyperlipoproteinemia) as an adjunct to diet (1.4) •. adult ... 1.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) 1.5 Adult Patients with Homozygous Familial ...
14.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) 14.5 Homozygous Familial Hypercholesterolemia 16 HOW ... 1.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia). Rosuvastatin tablets are indicated as an adjunct to diet ... 1.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) 1.5 Adult Patients with Homozygous Familial ... 14.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia). In a randomized, multicenter, double-blind crossover study ...
14.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) 14.5 Homozygous Familial Hypercholesterolemia 16 HOW ... 1.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia). Rosuvastatin calcium tablets are indicated as an adjunct to ... 1.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia) 1.5 Adult Patients with Homozygous Familial ... 14.4 Primary Dysbetalipoproteinemia (Type III Hyperlipoproteinemia). In a randomized, multicenter, double-blind crossover study ...
Type III Hyperlipoproteinemia. ApoE. Individuals with family history or clinical symptoms of CVD. Diagnosis of Type III ... Diabetes, Type II. TCF7L2. General population. Predictive testing/risk assessment. ,Menopause, Early. Fragile X or FMR1. Women ... Diabetes, Type II. pPARG2. 1) Individuals with clinical suspicion or family history of diabetes; 2) General population. 1) ... Individuals with clinical suspicion of Hereditary hemorrhagic telangiectasia type 2 (HHT2). Diagnosis. ...
... frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. ... frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. ... frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. ... frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. ...
Type I hyperlipoproteinemia; Familial chylomicronemia; Familial LPL deficiency. Images. *. Coronary artery disease ...
Hyperlipoproteinemia Type II / diagnosis* * Hyperlipoproteinemia Type II / genetics * Male * Middle Aged * Primary Health Care ...
Hyperlipoproteinemia, type I MedGen: C0023817 OMIM: 238600 GeneReviews: Familial Lipoprotein Lipase Deficiency ... Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are ... Gene type. protein coding. RefSeq status. REVIEWED. Organism. Homo sapiens Lineage. Eukaryota; Metazoa; Chordata; Craniata; ... Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.. EBI GWAS Catalog. EBI GWAS ...
Drug therapy is not indicated for patients with Type I hyperlipoproteinemia, who have elevations of chylomicrons and plasma ... Some Type IV patients with triglycerides under 1000 mg/dL may, through dietary or alcoholic indiscretion, convert to a Type V ... If a woman receiving nicotinic acid for primary hypercholesterolemia (Types IIa or IIb) becomes pregnant, the drug should be ... If a woman being treated with nicotinic acid for hypertriglyceridemia (Types IV or V) conceives, the benefits and risks of ...
Genetic Testing Registry: Hyperlipoproteinemia, type I Genetic and Rare Diseases Information Center. *Familial lipoprotein ...
Hyperlipoproteinemia Type I. C18 - Nutritional and Metabolic Diseases. Hyperlipidemia. Hyperlipidemias. Hyperlipoproteinemia. ...
Type IV and Type V hyperlipidemia. EXCLUSION CRITERIA: Inability to provide informed consent.. --Back to Top-- ... Type: No longer recruiting/follow-up only Gender: Male & Female Min Age: 2 Max Age: 99 ... Type III Hyperlipoproteinemia; Plasma Lipoproteins Condition(s). Evaluation of Plasma Lipoproteins Investigational Drug(s) ...
Categories: Hyperlipoproteinemia Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
has a disorder known as type 1 hyperlipoproteinemia. *has severe liver disease, kidney disease, or gallbladder disease ... Talk to your doctor about the risks and benefits of taking the two types of medications together. ... has had a sunburn type reaction after taking any fibrate medication or ketoprofen ...
Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal metabolism. Scriver ... Feussner G, Piesch S, Dobmeyer J, Fischer C. Genetics of type III hyperlipoproteinemia. Genet Epidemiol. 1997. 14(3):283-97. [ ... Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J Lipid Res. 1999 ... Modulation of the type III hyperlipoproteinemic phenotype by estrogen and occurrence of spontaneous atherosclerosis. J Biol ...
Nephrology, Rheumatology, Hematology 1. Inherited kidney disease (polycystic kidney disease - autosomal dominant type, type IV ... Hyperlipoproteinemia and dyslipoproteinemia (classification, diagnosis, treatment) 26. Metabolic syndrome 27. Imaging and ... 0/0/0. 4 credit(s). Type of Completion: zk (examination).. Taught in person.. Teacher(s). prof. MUDr. Zdeněk Adam, CSc. ( ... Acute and chronic viral hepatitis (type A, B, C, D, E and other viral infections of the liver) 21. Jaundice - pathophysiology ...
Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 01/2013. 1. Hypercholesterolemia 01/2013. 1. Acute Coronary ...
Hyperlipoproteinemia Type II/complications; Hyperlipoproteinemia Type II/genetics*; Male; Middle Aged; Public Health; Risk ...
Hyperlipoproteinemia Type II* / chemically induced Actions. * Search in PubMed * Search in MeSH ...
is now FDA approved for the diagnosis of type III hyperlipoproteinemia. or dysbetalipoproteinemia as well as for CHD risk ... THE ROLE OF NONESTERIFIED FATTY ACIDS IN THE PATHOGENESIS OF THE INSULIN RESISTANCE OF TYPE 2 DIABETES MELLITUS. ... Type 2 diabetes is associated with a two-fold increased risk for CHD. In most studies, the relative risk of CHD is greater in ... In 14 data sets taken from placebo-controlled, randomized trials in patients with type 2 diabetes, an average of 3.7 g of w3 FA ...
Hyperlipoproteinemia (Type V),e,,,1,0,1,,, 409,20756,Read Directions,z,,,1,1,2,,, 410,16331,Amniotic Fluid Color,c,,AMN; ... Hyperlipoproteinemia (Type IV),e,,,1,0,1,,, 516,10337,Serous Cystadenocarcinoma,o,1462,,1,0,1,,, 517,29992,Assault - Other ... Hyperlipoproteinemia (Type I),e,,,1,0,1,,, 2392,10440,Malignant Chondroblastoma,o,1404,,1,0,1,,, 2393,10439,Chondroblastoma,y, ... Firearm Type,z,,,1,1,2,,, 3346,13453,Cesarean Section for CPD,c,,,1,1,2,,, 3347,9771,Polyphagia,e,8703,,0,0,0,,, 3349,14710, ...
Soybean-protein diet in the treatment of type-II hyperlipoproteinaemia. Lancet 1977;1:275-7. ... Low-carbohydrate-diet score and risk of type 2 diabetes in women. Am J Clin Nutr 2008;87:339-46. ... Regular consumption of nuts is associated with a lower risk of cardiovascular disease in women with type 2 diabetes. J Nutr ... Walnut consumption is associated with lower risk of type 2 diabetes in women. J Nutr 2013;143:512-18. ...
Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia). Arthritis Rheum. 1968 Jun. 11(3):385- ...
  • Lipoprotein disorders (also referred to as Lipid disorders, or Dyslipidemias, or Dyslipoproteinemias ) were first classified in 1967 into different phenotypes by Fredrickson according to the type of lipoproteins that are affected. (wikidoc.org)
  • Hyperlipoproteinemias generally cause elevations in the affected lipids/lipoproteins and hypolipoproteinemia s generally cause reductions in the affected lipids/lipoproteins. (wikidoc.org)
  • Hyperlipoproteinemia type III is one disease characterized by elevated triglycerides and beta-very low-density lipoproteins. (genebase.com)
  • Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. (nih.gov)
  • Distribution of apolipoprotein(a) in the plasma from patients with lipoprotein lipase deficiency and with type III hyperlipoproteinemia. (jci.org)
  • Biophysical analysis of apolipoprotein E3 variants linked with development of type III hyperlipoproteinemia. (harvard.edu)
  • Hyperlipoproteinemia type II, also known as familial hypercholesterolemia (FH), is a genetic condition characterized by high cholesterol concentrations, specifically elevated levels of low-density lipoprotein (LDL), often referred to as bad cholesterol. (imarcgroup.com)
  • Type IV hyperlipoproteinemia is the most typical form of hyperlipidemia, marked by hypertriglyceridemia and moderate hypercholesterolemia. (industryarc.com)
  • AROAPOC-3 is an antisense rnai oligonucleotide commercialized by Arrowhead Pharmaceuticals , with a leading Phase III program in Familial Chylomicronemia (Type I Hyperlipoproteinemia). (pharmaceutical-technology.com)
  • We have determined the phenotype, concentration, and distribution of apo(a) in plasma from patients with lipoprotein lipase (LPL) deficiency (type I hyperlipoproteinemia, n = 14), in apo E 2/2 homozygotes with type III hyperlipoproteinemia (n = 12) and in controls (n = 16). (jci.org)
  • Hyperlipoproteinemia type 1 is caused due to deficiency of lipoprotein lipase. (openpr.com)
  • Fatty liver hepatitis and type 5 hyperlipoproteinemia in juvenile diabetes mellitus. (nih.gov)
  • A 28-year-old man with poorly controlled juvenile-onset diabetes mellitus presented with jaundice and type 5 hyperlipoproteinemia . (nih.gov)
  • This review will summarize the updated research progress on APOE functions and its role in Alzheimer's disease, Parkinson's disease, cardiovascular diseases, multiple sclerosis, type 2 diabetes mellitus, Type III hyperlipoproteinemia, vascular dementia, and ischemic stroke. (dovepress.com)
  • 3 In this review, we discuss the biological functions of human APOE and its role in Alzheimer's disease (AD), Parkinson's disease (PD), cardiovascular diseases (CVD), multiple sclerosis (MS), type 2 diabetes mellitus (T2DM), vascular dementia (VD), and ischemic (occlusive) stroke (IS). (dovepress.com)
  • Orlistat also helps in reducing blood pressure and prevents the onset of type 2 diabetes in obese people. (openpr.com)
  • As apoE2 binds defectively to LDL receptors, apoE2 homozygosity can precipitate type III hyperlipoproteinemia, however, only occurs when another condition, including: diabetes, oestrogen deficiency, hypothyroidism, or obesity, leads to the overproduction of VLDL or fewer LDL receptors, overwhelming the limited ability of apoE2 to mediate the clearance of triglyceride-rich and cholesterol-rich β-VLDL. (randox.com)
  • 2. Uncontrolled or newly diagnosed (=3 months since diagnosis) Type 2 diabetes mellitus as determined by the Principal Investigator. (who.int)
  • 300 mg/dL or those who have type 3 hyperlipoproteinemia owing to an increased secretion of triglyceride-rich particles, which can produce marked hypertriglyceridemia in some cases. (medscape.com)
  • Considering apo(a) type, the plasma concentration of apo(a) was normal in type III patients but significantly reduced in LPL deficiency. (jci.org)
  • However, APOE2 carriers could develop type III hyperlipoproteinemia and exhibit increased risk of cerebrovascular diseases and neurological disorders. (j-alz.com)
  • Who is working on investigational drugs for Hyperlipoproteinemia Type IV? (drugpatentwatch.com)
  • Drugs and a special diet may help, but the chance of a cure is uncertain because the person with Type V risks developing pancreatitis. (pharmacy-online.ca)
  • Xanthomas commonly associated with hypercholesterinaemia and increased levels of LDL (low density lipoprotein) in type II and type III hyperlipoproteinaemia and in secondary hyperlipidaemia. (dermis.net)
  • Hyperlipoproteinemia has been thought to be a major risk factor for coronary arterial disease, which is frequently associated with patients with primary gout. (go.jp)
  • If there is no contributing problem, the primary treatment for Types II, III, and IV is often dietary management - namely restricting cholesterol intake. (pharmacy-online.ca)
  • Additionally, the emerging application of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors via subcutaneous injections to enhance treatment adherence compared to several other injectable medications is expected to drive the hyperlipoproteinemia type II market during the forecast period. (imarcgroup.com)
  • 10-year Global patient forecast for Hyperlipoproteinemia Type 1. (blueprintorphan.com)
  • SLx-4090 is used to treat high blood fat level mostly observed in hyperlipoproteinemia type 1 patients. (openpr.com)
  • In the previous study we demonstrated that type IIb and IV hyperlipoproteinemia coexist frequently in gouty patients. (go.jp)
  • The plasma lipoprotein composition of six patients with mixed hyperlipoproteinemia (MH) was investigated in a study of influence of apoprotein content and lipase activities on mechanisms of plasma triglyceride (TG) production and removal. (utmb.edu)
  • The 7 major hyperlipoproteinemia type II markets are expected to exhibit a CAGR of 7.07% during 2023-2033. (imarcgroup.com)
  • The most effective treatment for Type V hyperlipoproteinemia is often weight reduction and long-term maintenance of a low-fat diet. (pharmacy-online.ca)
  • Secondly, Fredrickson's classification of hyperlipoproteinemia s took into consideration the elevation in chylomicrons , LDL , VLDL but did not include abnormalities in HDL levels. (wikidoc.org)
  • According to the report the United States has the largest patient pool for hyperlipoproteinemia type II and also represents the largest market for its treatment. (imarcgroup.com)
  • Orlistat is used for the treatment of hyperlipoproteinemia type 1. (openpr.com)
  • IMARC Group's new report provides an exhaustive analysis of the hyperlipoproteinemia type II market in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. (imarcgroup.com)
  • This report provides comprehensive information on the therapeutic development for Post-Operative Pain, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases. (powershow.com)
  • Pain, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases. (powershow.com)
  • Xanthomas are one of types of skin lesions that may occur in this situation. (wikipedia.org)
  • Fasting blood samples were obtained initially and at monthly intervals following institution of a low fat, low carbohydrate, Type V diet. (utmb.edu)
  • The rising cases of genetic mutations, which can affect the body's ability to efficiently remove LDL cholesterol from the blood, thereby leading to its accumulation, are primarily driving the hyperlipoproteinemia type II market. (imarcgroup.com)
  • The contents of these tape files are presented in the Outline of Items and Codes for each record type. (cdc.gov)
  • One hundred forty-seven relatives of 43 patients with "classical" type III hyperlipoproteinemia (HLP) having the apolipoprotein (apo) E2/2 phenotype were studied to determine the occurrence of hyperlipidemia and the presence of further possible genes for lipoprotein disorders in these families. (nih.gov)
  • Nicotinic acid is also indicated as adjunctive therapy for the treatment of adult patients with very high serum triglyceride levels (Types IV and V hyperlipidemia) † who present a risk of pancreatitis and who do not respond adequately to a determined dietary effort to control them. (rxlist.com)
  • Plasma triglyceride levels greater than 150 mg/dl - includes patients with deficiency of lipoprotein lipase, hepatic lipase or apoC-II, dysbetalipoproteinemia, Type IV and Type V hyperlipidemia. (nih.gov)
  • Even without a definitive diagnosis from the workup, treatment of presumed dysbetalipoproteinemia may proceed, because other lipid disorders, such as type IIb hyperlipidemia produce similar elevations in cholesterol and triglyceride levels and will respond to the same medical interventions. (medscape.com)
  • Hyperlipoproteinemia kind V, also called blended hyperlipoproteinemia familial or blended hyperlipidemia, is very similar to sort I, but with high VLDL in addition to chylomicrons. (7red.com)
  • A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. (bvsalud.org)
  • The only procedure that reliably distinguishes between a mixed hyperlipoproteinemia (increased LDL cholesterol and triglycerides) and type III hyperlipoproteinemia (increased IDL) is beta quantification (lipoprotein electrophoresis). (medscape.com)
  • Niacor ( niacin ), also called nicotinic acid, is a B vitamin (vitamin B3) used to treat and prevent a lack of natural niacin in the body, and to lower cholesterol and triglycerides (types of fat) in the blood. (rxlist.com)
  • Some Type IV patients with triglycerides under 1000 mg/dL may, through dietary or alcoholic indiscretion, convert to a Type V pattern with massive triglyceride elevations accompanying fasting chylomicronemia, but the influence of nicotinic acid therapy on the risk of pancreatitis in such situations has not been adequately studied. (rxlist.com)
  • Drug therapy is not indicated for patients with Type I hyperlipoproteinemia, who have elevations of chylomicrons and plasma triglycerides, but who have normal levels of VLDL. (rxlist.com)
  • Hyperlipoproteinemia type III occurs due to the diminished metabolism of cholesterol and triglycerides in the blood. (cardiovasculardna.com)
  • Apo E levels are measured for diagnosing hyperlipoproteinemia in patients with increase plasma triglycerides and cholesterol. (meridianbioscience.com)
  • It works by blocking the production of certain types of cholesterol, especially the type known as triglycerides . (pocketpills.com)
  • Both type I and II of DM are risk factors for coronary artery disease (4) but type I patients presents cardiovascular diseases in younger ages than type II (5). (ispub.com)
  • Coronary artery lesions are classified regarding their complexity into three major types, according to the classification by American College of Cardiology (ACC) and American Heart Association (AHA) (8). (ispub.com)
  • Atorvastatin is used to treat high cholesterol, and to lower the risk of stroke, heart attack, or other heart complications in people with type 2 diabetes, coronary heart disease, or other risk factors. (cue-state-photography.de)
  • Also often known as broad beta illness or dysbetalipoproteinemia, the commonest trigger for this type is the presence of ApoE E2/E2 genotype. (7red.com)
  • We report a case of eruptive xanthoma with type IV hyperlipoproteinemia and Koebner phenomenon in a 28-year-old Korean male. (elsevierpure.com)
  • However, only a small proportion of people carrying this genotype actually develop hyperlipoproteinemia, so other genetic, environmental or hormonal factors are also thought to play a role. (cardiovasculardna.com)
  • If the direct LDL cholesterol is significantly lower than the calculated LDL cholesterol, a diagnosis of type IIIhyperlipoproteinemia is likely. (medscape.com)
  • type II is similar but is an X-linked disorder. (theodora.com)
  • The defective binding of apolipoprotein (apo) E2 to lipoprotein receptors, an underlying cause of type III hyperlipoproteinemia, results from replacement of Arg 158 with Cys, disrupting the naturally occurring salt bridge between Asp 154 and Arg 158. (rcsb.org)
  • It is a hyperlipoproteinemia type II A, diagnosed by: elevated serum low-density lipoprotein cholesterol (LDLc) with normal high-density lipoprotein cholesterol (HDLc), clinical aspect (xanthodermia), clear serum at direct examination. (hovawartclub.hu)
  • Clinical features of Mexican patients with Mucopolysaccharidosis type I. (geneticsmr.com)
  • Patients should avoid alcohol and estrogen in certain types of hyperlipoproteinemias. (medscape.com)
  • Besides homozygosity for a receptor binding-defective isoform of apo E (apo E2), additional genes for familial lipoprotein disorders might operate in the pathogenesis of type III HLP. (nih.gov)
  • Specialized lipid centers should be contacted if type IIb or III must be confirmed. (medscape.com)
  • Hyperlipoproteinemia sort II is further classified into sorts IIa and IIb, depending mainly on whether elevation in the triglyceride stage occurs in addition to LDL ldl cholesterol. (7red.com)
  • Its bitter tasting leaves have been used in traditional medicine and contain labdane-type diterpene lactone andrographolide. (nih.gov)
  • Xanthomas are one of types of skin lesions that may occur in this situation. (wikipedia.org)
  • Each type of medication will also be imprinted with a unique code. (pfotenengel-ev.de)