Antithrombin III Deficiency
Antithrombin III
Protein S Deficiency
Antithrombins
Methionine Adenosyltransferase
Cytochromes b
Heparin
Electron Transport Complex III
Encyclopedias as Topic
Antithrombin Proteins
Thrombophilia
Extracorporeal Circulation
Serpins
Familial overexpression of beta antithrombin caused by an Asn135Thr substitution. (1/74)
We have investigated the basis of antithrombin deficiency in an asymptomatic individual (and family) with borderline levels (approximately 70% antigen and activity) of antithrombin. Direct sequencing of amplified DNA showed a mutation in codon 135, AAC to ACC, predicting a heterozygous Asn135Thr substitution. This substitution alters the predicted consensus sequence for glycosylation, Asn-X-Ser, adjacent to the heparin interaction site of antithrombin. The antithrombin isolated from plasma of the proband by heparin-Sepharose chromatography contained amounts of beta antithrombin (the very high affinity fraction) greatly increased (approximately 20% to 30% of total) above the trace levels found in normals. Expression of the residue 135 variant in both a cell-free system and COS-7 cells confirmed altered glycosylation arising as a consequence of the mutation. Wild-type and variant protein were translated and exported from COS-7 cells with apparently equal efficiency, in contrast to the reduced level of variant observed in plasma of the affected individual. This case represents a novel cause of antithrombin deficiency, removal of glycosylation concensus sequence, and highlights the potentially important role of beta antithrombin in regulating coagulation. (+info)Plasma antithrombin III deficiency in ischaemic stroke in the young. (2/74)
A deficiency of plasma antithrombin III has been identified as a potential risk factor for thrombosis. In a pilot study of 56 patients aged less than 40 years who presented with ischaemic stroke of unknown etiology, we detected only one case of plasma antithrombin III deficiency. Antithrombin III activity was estimated by a chromogenic assay. Hence, antithrombin III deficiency, though rare, should be considered while evaluating young patients with stroke of unknown etiology. (+info)Enhancement of heparin cofactor II anticoagulant activity. (3/74)
Heparin cofactor II (HCII) is a serpin whose thrombin inhibition activity is accelerated by glycosaminoglycans. We describe the novel properties of a carboxyl-terminal histidine-tagged recombinant HCII (rHCII-CHis(6)). Thrombin inhibition by rHCII-CHis(6) was increased >2-fold at approximately 5 microgram/ml heparin compared with wild-type recombinant HCII (wt-rHCII) at 50-100 microgram/ml heparin. Enhanced activity of rHCII-CHis(6) was reversed by treatment with carboxypeptidase A. We assessed the role of the HCII acidic domain by constructing amino-terminal deletion mutants (Delta1-52, Delta1-68, and Delta1-75) in wt-rHCII and rHCII-CHis(6). Without glycosaminoglycan, unlike wt-rHCII deletion mutants, the rHCII-CHis(6) deletion mutants were less active compared with full-length rHCII-CHis(6). With glycosaminoglycans, Delta1-68 and Delta1-75 rHCIIs were all less active. We assessed the character of the tag by comparing rHCII-CHis(6), rHCII-CAla(6), and rHCII-CLys(6) to wt-rHCII. Only rHCII-CHis(6) had increased activity with heparin, whereas all three mutants have increased heparin binding. We generated a carboxyl-terminal histidine-tagged recombinant antithrombin III to study the tag on another serpin. Interestingly, this mutant antithrombin III had reduced heparin cofactor activity compared with wild-type protein. In a plasma-based assay, the glycosaminoglycan-dependent inhibition of thrombin by rHCII-CHis(6) was significantly greater compared with wt-rHCII. Thus, HCII variants with increased function, such as rHCII-CHis(6), may offer novel reagents for clinical application. (+info)The prevalence of hereditary thrombophilia in the Trakya region of Turkey. (4/74)
The prevalences of deficiencies in antithrombin III (AT III), protein C (PC), protein S (PS) and in the activated protein C (APC) resistance in the thrombotic population of the Trakya region, Turkey were investigated. 37 patients with venous thrombosis (VT) and 17 patients with arterial thrombosis (ArT) were included in this study. The mean ages of the patients with VT and ArT were 46 years (range 20-70) and 38 years (range 32-40), respectively. The activity of AT III was measured by commercially available immuno-turbidimetric assay. The activities of PC and PS were determined by coagulometric assay. The APC resistance was measured using a modified APTT-based clotting assay. Among the VT patients, there were 2 cases (5.4%) with AT III, 5 (13.51%) with PC deficiency, 5 (13.51%) with PS deficiency and 2 (5.4%) with APC resistance. In the ArT patient group, there was 1 patient (5.88%) with AT III, 3 (17.64%) with PC deficiency, 1 (5.88%) with PS deficiency and no APC resistant patients, while there was one (2.08%) with PC deficiency and one (2.08%) with APC resistance in the control group (49 persons, mean age 41 years). The relative risk of thrombosis (odds ratio) was 1.7 in the deficiency of PC and 5.6 in the deficiency of PS. The data presented suggests that the prevalences of AT III, PC and PS deficiencies causing thrombophilia in the Trakya region of Turkey are higher than in other reported studies while the APC resistance is lower than in others. Further studies including more patients would be required to clarify these discrepancies. (+info)Complete antithrombin deficiency in mice results in embryonic lethality. (5/74)
Antithrombin is a plasma protease inhibitor that inhibits thrombin and contributes to the maintenance of blood fluidity. Using targeted gene disruption, we investigated the role of antithrombin in embryogenesis. Mating mice heterozygous for antithrombin gene (ATIII) disruption, ATIII(+/-), yielded the expected Mendelian distribution of genotypes until 14.5 gestational days (gd). However, approximately 70% of the ATIII(-/-) embryos at 15.5 gd and 100% at 16.5 gd had died and showed extensive subcutaneous hemorrhage. Histological examination of those embryos revealed extensive fibrin(ogen) deposition in the myocardium and liver, but not in the brain or lung. Furthermore, no apparent fibrin(ogen) deposition was detected in the extensive hemorrhagic region, suggesting that fibrinogen might be decreased due to consumptive coagulopathy and/or liver dysfunction. These findings suggest that antithrombin is essential for embryonic survival and that it plays an important role in regulation of blood coagulation in the myocardium and liver. (+info)Inherited thrombophilia in ischemic stroke and its pathogenic subtypes. (6/74)
BACKGROUND AND PURPOSE: One or more of the inherited thrombophilias may be causal risk factor for a proportion of ischemic strokes, but few studies have addressed this association or the association between thrombophilia and pathogenic subtypes of stroke. METHODS: We conducted a case-control study of 219 hospital cases with a first-ever ischemic stroke and 205 randomly selected community control subjects stratified by age, sex, and postal code. With the use of established criteria, cases of stroke were classified by pathogenic subtype in a blinded fashion. The prevalence of conventional vascular risk factors; fasting plasma levels of protein C, protein S, antithrombin III; and genetic tests for the factor V Leiden and the prothrombin 20210A mutation were determined in cases and control subjects. RESULTS: The prevalence of any thrombophilia was 14.7% (95% CI, 9.9% to 19.5%) among cases and 11.7% (95% CI, 7.4% to 17.0%) among control subjects (OR, 1.3; 95% CI, 0.7% to 2.3%). The prevalence of individual thrombophilias among cases ranged from 0.9% (95% CI, 0.1% to 3.4%) for protein S deficiency to 5.2% (95% CI, 0.3% to 9.1%) for antithrombin III deficiency; among control subjects, the prevalence ranged from 1.0% (95% CI, 0.1% to 3.6%) for protein S deficiency to 4.1% (95% CI, 0.2% to 7.8%) for antithrombin III deficiency. There were no significant differences in the prevalence of thrombophilia between cases and control subjects or between pathogenic subtypes of ischemic stroke. CONCLUSIONS: One in 7 patients with first-ever acute ischemic stroke will test positive for one of the inherited thrombophilias, but the relation is likely to be coincidental rather than causal in almost all cases, irrespective of the pathogenic subtype of the ischemic stroke. These results suggest that routine testing for thrombophilia in most patients with acute ischemic stroke may be unnecessary. Whether the thrombophilias may still be important in younger patients with ischemic stroke or in predicting complications (eg, venous thrombosis) and stroke outcome remains uncertain. (+info)Mesenteric venous thrombosis: a changing clinical entity. (7/74)
OBJECTIVE: Mesenteric venous thrombosis (MVT) and its clinical spectrum have become better defined following improvements in diagnostic imaging. Historically, MVT has been described as a morbid clinical entity, but this may not necessarily be true. Often, an underlying disease process that predisposes a patient to MVT can be found and potentially treated. This study was designed to evaluate the diagnostics and management of MVT and to review long-term results of treatment. PATIENTS: Thirty-one patients in whom MVT was diagnosed between 1985 and 1999 were retrospectively reviewed. Survivors were contacted for follow-up. There were 15 men and 16 women. Ages ranged from 22 to 80 years (mean, 49.1 years). Thirteen patients had documented hypercoagulability, 10 had a history of previous abdominal surgery, 6 had a prior thrombotic episode, and 4 had a history of cancer. MVT presented as abdominal pain (84%), diarrhea (42%), and nausea/vomiting (32%). Computed tomography (CT) was considered diagnostic in 18 (90%) of 20 patients who underwent the test. CT diagnosed MVT in 15 (100%) of 15 patients presenting with vague abdominal pain or diarrhea. Angiography demonstrated MVT in only five (55.5%) of nine patients. RESULTS: Seven of 31 patients died within 30 days (< 30-day mortality rate, 23%). Twenty-two patients (72%) were initially treated with heparin. Nine patients were not heparinized: four of them died, and two were later given warfarin sodium (Coumadin). Of the 31 patients, only one received lytic therapy. Three patients became symptom free without anticoagulation. Ten patients (32%) underwent bowel resection. Overall, 19 (79%) of 24 survivors were treated with long-term warfarin therapy. Long-term follow-up was obtained in 24 patients (mean, 57.7 months). Twenty-one (88%) of 24 survived in follow-up. CONCLUSION: The diagnosis of MVT should be suspected when acute abdominal symptoms develop in patients with prior thrombotic episodes or a documented coagulopathy. CT scanning appears to be the primary diagnostic test of choice. Anticoagulation is recommended. If diagnosed and treated early, MVT is not likely to progress to gangrenous bowel. Recent mortality rates for MVT are lower than previously published, perhaps because of earlier diagnosis and aggressive treatment or possibly because we now readily diagnose a more benign form of the disease, which is due to widespread use of CT scanning. (+info)Recombinant human transgenic antithrombin in cardiac surgery: a dose-finding study. (8/74)
BACKGROUND: Acquired antithrombin III (AT) deficiency may render heparin less effective during cardiac surgery and cardiopulmonary bypass (CPB). The authors examined the pharmacodynamics and optimal dose of recombinant human AT (rh-AT) needed to maintain normal AT activity during CPB, optimize the anticoagulant response to heparin, and attenuate excessive activation of the hemostatic system in patients undergoing coronary artery bypass grafting. METHODS: Thirty-six patients scheduled to undergo elective primary coronary artery bypass grafting and who had received heparin for 12 h or more before surgery were enrolled in the study. Ten cohorts of three patients each received rh-AT in doses of 10, 25, 50, 75, 100, 125, 175, or 200 U/kg, a cohort of six patients received 150 U/kg of rh-AT, and a control group of six patients received placebo. RESULTS: Antithrombin III activity exceeded 600 U/dl before CPB at the highest dose (200 U/kg). Doses of 75 U/kg rh-AT normalized AT activity to 100 U/dl during CPB. Activated clotting times during CPB were significantly (P < 0.0001) greater in patients who received rh-AT (844 +/- 191 s) compared with placebo patients (531 +/- 180 s). Significant (P = 0.001) inverse relations were observed between rh-AT dose and both fibrin monomer (r = -0.51) and D-dimer (r = -0.51) concentrations. No appreciable adverse events were observed with any rh-AT doses used in the study. CONCLUSIONS: Supplementation of native AT with transgenically produced protein (rh-AT) in cardiac surgical patients was well tolerated and resulted in higher activated clotting times during CPB and decreased levels of fibrin monomer and D-dimer. (+info)Antithrombin III (ATIII) deficiency is a genetic disorder that affects the body's ability to regulate blood clotting. ATIII is a protein produced in the liver that inhibits the activity of thrombin and other coagulation factors, preventing excessive clot formation.
People with ATIII deficiency have lower than normal levels of this protein, which can lead to an increased risk of developing abnormal blood clots (thrombosis) in veins, particularly deep vein thrombosis (DVT) and pulmonary embolism (PE). These clots can cause serious complications, including damage to the affected veins, organ damage, and even death.
ATIII deficiency can be classified into two types: type I and type II. Type I is characterized by a quantitative decrease in ATIII levels, while type II is characterized by a qualitative defect that results in reduced functional activity of the protein.
The condition is usually inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the gene mutation from an affected parent. However, some cases may occur spontaneously due to new mutations in the ATIII gene. Treatment for ATIII deficiency typically involves anticoagulation therapy with medications such as heparin or warfarin to prevent blood clots from forming.
Antithrombin III is a protein that inhibits the formation of blood clots (thrombi) in the body. It does this by inactivating several enzymes involved in coagulation, including thrombin and factor Xa. Antithrombin III is produced naturally by the liver and is also available as a medication for the prevention and treatment of thromboembolic disorders, such as deep vein thrombosis and pulmonary embolism. It works by binding to and neutralizing excess clotting factors in the bloodstream, thereby reducing the risk of clot formation.
Protein S deficiency is a genetic disorder that affects the body's ability to coagulate blood properly. Protein S is a naturally occurring protein in the blood that helps regulate the clotting process by deactivating clotting factors when they are no longer needed. When Protein S levels are too low, it can lead to an increased risk of abnormal blood clots forming within blood vessels, a condition known as thrombophilia.
There are three types of Protein S deficiency: Type I (quantitative deficiency), Type II (qualitative deficiency), and Type III (dysfunctional protein). These types refer to the amount or function of Protein S in the blood. In Type I, there is a decrease in both free and total Protein S levels. In Type II, there is a decrease in functional Protein S despite normal total Protein S levels. In Type III, there is a decrease in free Protein S with normal total Protein S levels.
Protein S deficiency can be inherited or acquired. Inherited forms of the disorder are caused by genetic mutations and are usually present from birth. Acquired forms of Protein S deficiency can develop later in life due to certain medical conditions, such as liver disease, vitamin K deficiency, or the use of certain medications that affect blood clotting.
Symptoms of Protein S deficiency may include recurrent blood clots, usually in the legs (deep vein thrombosis) or lungs (pulmonary embolism), skin discoloration, pain, and swelling in the affected area. In severe cases, it can lead to complications such as chronic leg ulcers, pulmonary hypertension, or damage to the heart or lungs.
Diagnosis of Protein S deficiency typically involves blood tests to measure Protein S levels and function. Treatment may include anticoagulant medications to prevent blood clots from forming or growing larger. Lifestyle modifications such as regular exercise, maintaining a healthy weight, and avoiding smoking can also help reduce the risk of blood clots in people with Protein S deficiency.
Thrombosis is the formation of a blood clot (thrombus) inside a blood vessel, obstructing the flow of blood through the circulatory system. When a clot forms in an artery, it can cut off the supply of oxygen and nutrients to the tissues served by that artery, leading to damage or tissue death. If a thrombus forms in the heart, it can cause a heart attack. If a thrombus breaks off and travels through the bloodstream, it can lodge in a smaller vessel, causing blockage and potentially leading to damage in the organ that the vessel supplies. This is known as an embolism.
Thrombosis can occur due to various factors such as injury to the blood vessel wall, abnormalities in blood flow, or changes in the composition of the blood. Certain medical conditions, medications, and lifestyle factors can increase the risk of thrombosis. Treatment typically involves anticoagulant or thrombolytic therapy to dissolve or prevent further growth of the clot, as well as addressing any underlying causes.
Antithrombins are substances that prevent the formation or promote the dissolution of blood clots (thrombi). They include:
1. Anticoagulants: These are medications that reduce the ability of the blood to clot. Examples include heparin, warfarin, and direct oral anticoagulants (DOACs) such as apixaban, rivaroxaban, and dabigatran.
2. Thrombolytic agents: These are medications that break down existing blood clots. Examples include alteplase, reteplase, and tenecteplase.
3. Fibrinolytics: These are a type of thrombolytic agent that specifically target fibrin, a protein involved in the formation of blood clots.
4. Natural anticoagulants: These are substances produced by the body to regulate blood clotting. Examples include antithrombin III, protein C, and protein S.
Antithrombins are used in the prevention and treatment of various thromboembolic disorders, such as deep vein thrombosis (DVT), pulmonary embolism (PE), stroke, and myocardial infarction (heart attack). It is important to note that while antithrombins can help prevent or dissolve blood clots, they also increase the risk of bleeding, so their use must be carefully monitored.
Methionine Adenosyltransferase (MAT) is an enzyme that plays a crucial role in the methionine cycle, also known as the one-carbon metabolism pathway. This enzyme is responsible for catalyzing the formation of S-adenosylmethionine (SAM), a universal methyl donor, from methionine and adenosine triphosphate (ATP).
The reaction can be summarized as follows:
Methionine + ATP → S-adenosylmethionine + PPi (inorganic pyrophosphate) + PP~i~ (tripolyphosphate)
SAM is a key molecule in various cellular processes, such as methylation of proteins, DNA, and RNA; polyamine synthesis; and the transsulfuration pathway. Therefore, Methionine Adenosyltransferase has a significant impact on cellular metabolism and homeostasis.
There are three isoforms of this enzyme in humans: MATα1, MATα2, and MATβ. These isoforms have different tissue distributions and regulatory mechanisms. MATα1 is primarily expressed in the liver, while MATα2 is found in various tissues, including the brain, kidney, and pancreas. MATβ is a testis-specific isoform. The combined activity of these isoforms ensures the proper regulation of SAM synthesis and maintains the balance between methionine metabolism and other essential cellular processes.
Cytochromes b are a group of electron transport proteins that contain a heme c group, which is the prosthetic group responsible for their redox activity. They play a crucial role in the electron transport chain (ETC) located in the inner mitochondrial membrane of eukaryotic cells and in the plasma membrane of prokaryotic cells.
The cytochromes b are part of Complex III, also known as the cytochrome bc1 complex or ubiquinol-cytochrome c reductase, in the ETC. In this complex, they function as electron carriers between ubiquinone (Q) and cytochrome c, participating in the process of oxidative phosphorylation to generate ATP.
There are multiple isoforms of cytochromes b found in various organisms, with different numbers of subunits and structures. However, they all share a common function as essential components of the electron transport chain, facilitating the transfer of electrons during cellular respiration and energy production.
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.
Electron Transport Complex III, also known as cytochrome bc1 complex or ubiquinol-cytochrome c reductase, is a protein complex located in the inner mitochondrial membrane of eukaryotic cells and the cytoplasmic membrane of prokaryotic cells. It plays a crucial role in the electron transport chain (ETC), a series of complexes that generate energy in the form of ATP through a process called oxidative phosphorylation.
In ETC, Electron Transport Complex III accepts electrons from ubiquinol and transfers them to cytochrome c. This electron transfer is coupled with the translocation of protons (H+ ions) across the membrane, creating an electrochemical gradient. The energy stored in this gradient drives the synthesis of ATP by ATP synthase.
Electron Transport Complex III consists of several subunits, including cytochrome b, cytochrome c1, and the Rieske iron-sulfur protein. These subunits work together to facilitate the electron transfer and proton translocation processes.
Thrombophlebitis is a medical condition characterized by the inflammation and clotting of blood in a vein, usually in the legs. The term thrombophlebitis comes from two words: "thrombo" which means blood clot, and "phlebitis" which refers to inflammation of the vein.
The condition can occur in superficial or deep veins. Superficial thrombophlebitis affects the veins just below the skin's surface, while deep vein thrombophlebitis (DVT) occurs in the deeper veins. DVT is a more serious condition as it can lead to complications such as pulmonary embolism if the blood clot breaks off and travels to the lungs.
Symptoms of thrombophlebitis may include redness, warmth, pain, swelling, or discomfort in the affected area. In some cases, there may be visible surface veins that are hard, tender, or ropy to touch. If left untreated, thrombophlebitis can lead to chronic venous insufficiency and other long-term complications. Treatment typically involves medications such as anticoagulants, antiplatelet agents, or thrombolytics, along with compression stockings and other supportive measures.
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
Thrombin is a serine protease enzyme that plays a crucial role in the coagulation cascade, which is a complex series of biochemical reactions that leads to the formation of a blood clot (thrombus) to prevent excessive bleeding during an injury. Thrombin is formed from its precursor protein, prothrombin, through a process called activation, which involves cleavage by another enzyme called factor Xa.
Once activated, thrombin converts fibrinogen, a soluble plasma protein, into fibrin, an insoluble protein that forms the structural framework of a blood clot. Thrombin also activates other components of the coagulation cascade, such as factor XIII, which crosslinks and stabilizes the fibrin network, and platelets, which contribute to the formation and growth of the clot.
Thrombin has several regulatory mechanisms that control its activity, including feedback inhibition by antithrombin III, a plasma protein that inactivates thrombin and other serine proteases, and tissue factor pathway inhibitor (TFPI), which inhibits the activation of factor Xa, thereby preventing further thrombin formation.
Overall, thrombin is an essential enzyme in hemostasis, the process that maintains the balance between bleeding and clotting in the body. However, excessive or uncontrolled thrombin activity can lead to pathological conditions such as thrombosis, atherosclerosis, and disseminated intravascular coagulation (DIC).
Antithrombin proteins are a type of protein found in the blood that inhibit the formation of blood clots. They work by binding to and neutralizing thrombin and other coagulation factors, such as factor Xa, that are involved in the coagulation cascade. Antithrombin proteins are an important part of the body's natural anticoagulant system, which helps to prevent excessive clotting and maintain proper blood flow.
Antithrombin proteins can be increased through the use of medications such as heparin, which binds to and enhances the activity of antithrombin. This is why heparin is often used as a treatment for conditions associated with abnormal blood clotting, such as deep vein thrombosis or pulmonary embolism.
It's worth noting that while antithrombin proteins are important for preventing excessive clotting, having too few of these proteins can also be a problem, as it can increase the risk of abnormal bleeding.
Thrombophilia is a medical condition characterized by an increased tendency to form blood clots (thrombi) due to various genetic or acquired abnormalities in the coagulation system. These abnormalities can lead to a hypercoagulable state, which can cause thrombosis in both veins and arteries. Commonly identified thrombophilias include factor V Leiden mutation, prothrombin G20210A mutation, antithrombin deficiency, protein C deficiency, and protein S deficiency.
Acquired thrombophilias can be caused by various factors such as antiphospholipid antibody syndrome (APS), malignancies, pregnancy, oral contraceptive use, hormone replacement therapy, and certain medical conditions like inflammatory bowel disease or nephrotic syndrome.
It is essential to diagnose thrombophilia accurately, as it may influence the management of venous thromboembolism (VTE) events and guide decisions regarding prophylactic anticoagulation in high-risk situations.
Extracorporeal circulation (ECC) is a term used in medicine to describe the process of temporarily taking over the functions of the heart and lungs by using a machine. This allows the surgeon to perform certain types of surgery, such as open-heart surgery, on a still and bloodless operating field.
During ECC, the patient's blood is circulated outside the body through a pump and oxygenator. The pump helps to maintain blood flow and pressure, while the oxygenator adds oxygen to the blood and removes carbon dioxide. This allows the surgeon to stop the heart and arrest its motion, making it easier to perform delicate procedures on the heart and surrounding structures.
Extracorporeal circulation is a complex and high-risk procedure that requires careful monitoring and management by a team of healthcare professionals. It carries risks such as bleeding, infection, and injury to blood vessels or organs. However, when performed correctly, it can be a life-saving measure for patients undergoing certain types of surgery.
SERPINs are an acronym for "serine protease inhibitors." They are a group of proteins that inhibit serine proteases, which are enzymes that cut other proteins. SERPINs are found in various tissues and body fluids, including blood, and play important roles in regulating biological processes such as inflammation, blood clotting, and cell death. They do this by forming covalent complexes with their target proteases, thereby preventing them from carrying out their proteolytic activities. Mutations in SERPIN genes have been associated with several genetic disorders, including emphysema, cirrhosis, and dementia.
Antithrombin III deficiency
List of OMIM disorder codes
Antithrombin
Warfarin necrosis
Cardiopulmonary bypass
Heparin cofactor II
Reza Razavi
Budd-Chiari syndrome
Thrombophilia
Superficial vein thrombosis
Phenprocoumon
Fresh frozen plasma
List of MeSH codes (C16)
Multifocal stenosing ulceration of the small intestine
Hypercoagulability in pregnancy
Pre-existing disease in pregnancy
Purpura fulminans
List of diseases (C)
Feminizing hormone therapy
Protein S deficiency
Serpin
Deep vein thrombosis
SRD5A3-CDG
Prothrombinase
Transferrin
List of MeSH codes (C15)
Reptilase time
Activated protein C resistance
Alpha-1 antitrypsin
Anticoagulant
Antithrombin III deficiency - Wikipedia
Congenital antithrombin III deficiency: MedlinePlus Medical Encyclopedia
Hereditary antithrombin deficiency: MedlinePlus Genetics
Antithrombin III Deficiency - Medical Dictionary
Antithrombin III Deficiency: Background, Pathophysiology, Epidemiology
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Prothrombin2
- [12] The most common ones are factor V Leiden (a mutation in the F5 gene at position 1691) and prothrombin G20210A , a mutation in prothrombin (at position 20210 in the 3' untranslated region of the gene). (ipfs.io)
- Genetic and acquired hypercoagulable states, such as factor V Leiden deficiency, prothrombin G20210A mutation, and antiphospholipid syndrome, are associated with cerebrovascular events, including cerebral venous thrombosis and ischemic stroke. (medlink.com)
Congenital6
- Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal. (medlineplus.gov)
- Congenital antithrombin III deficiency is an inherited disease. (medlineplus.gov)
- Congenital antithrombin III deficiency is an autosomal dominant disorder in which an individual inherits one copy of the SERPINC1 (also called AT3 ) gene on chromosome 1q25.1, which encodes antithrombin III. (medscape.com)
- Severe congenital antithrombin III deficiency, in which the individual inherits 2 defective genes, is a rare autosomal recessive condition associated with increased thrombogenesis, typically noted in the neonatal period or early infancy. (medscape.com)
- The rare forms of congenital thrombophilia are typically caused by a deficiency of natural anticoagulants. (ipfs.io)
- [12] Congenital deficiency of plasminogen , for instance, mainly causes eye symptoms and sometimes problems in other organs, but the link with thrombosis has been more uncertain. (ipfs.io)
Thrombophilia1
- [2] The first major form of thrombophilia, antithrombin deficiency , was identified in 1965, while the most common abnormalities (including factor V Leiden ) were described in the 1990s. (ipfs.io)
Hereditary17
- Hereditary antithrombin deficiency results in a state of increased coagulation which may lead to venous thrombosis. (wikipedia.org)
- The causes of acquired antithrombin deficiency are easier to find than the hereditary deficiency. (wikipedia.org)
- Hereditary antithrombin deficiency is a disorder of blood clotting. (medlineplus.gov)
- In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries. (medlineplus.gov)
- About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. (medlineplus.gov)
- Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. (medlineplus.gov)
- The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. (medlineplus.gov)
- Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. (medlineplus.gov)
- Hereditary antithrombin deficiency is estimated to occur in about 1 in 2,000 to 3,000 individuals. (medlineplus.gov)
- Of people who have experienced an abnormal blood clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. (medlineplus.gov)
- Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. (medlineplus.gov)
- Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. (medlineplus.gov)
- Brouwer JL, Lijfering WM, Ten Kate MK, Kluin-Nelemans HC, Veeger NJ, van der Meer J. High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. (medlineplus.gov)
- Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. (medlineplus.gov)
- The molecule, a recombinant Antithrombin, has been manufactured by rEVO Biologics and has been useful in treating patients suffering from hereditary antithrombin (AT) deficiency undergoing surgery or giving birth. (openpr.com)
- However, the treatment is not yet approved for indications in patients suffering from hereditary antithrombin deficient. (openpr.com)
- Neonatal PF manifests early in life and is secondary to hereditary or acquired deficiency of protein C, protein S, or antithrombin III. (logicalimages.com)
Thrombosis11
- There is an elevated risk of thrombosis, whereby 50% patients with AT deficiency were found to have venous thromboembolism by age 50. (wikipedia.org)
- childhood thrombosis, 3. (wikipedia.org)
- Deficiency can result from genetic predisposition or from acquired causes such as: acute thrombosis, disseminated intravascular coagulopathy, liver disease, nephrotic syndrome, asparaginase deficiency, oral contraception/estrogens. (wikipedia.org)
- Thus, even short periods of abnormal liver function may reduce antithrombin production, leading to potential thrombosis. (medscape.com)
- The authors report a case of intrahepatic portal vein thrombosis in a sixty-four-year-old Japanese man with antithrombin III deficiency who successfully underwent cholecystec tomy and common bile duct exploration. (elsevierpure.com)
- To their knowledge, this is the first report of portal vein thrombosis due to primary antithrombin III deficiency. (elsevierpure.com)
- Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds. (bmj.com)
- Adults heterozygotes for FVL deficiency have 5-10 × increased risk of venous thrombosis, and homozygotes ×30. (brainkart.com)
- Thromboembolism is rare in childhood, but severe deficiency can cause life-threatening massive thrombosis in newborns, resulting in skin bruises that may become necrotic (purpura fulminans). (brainkart.com)
- FFP can be used as a source of antithrombin III in patients who are deficient in this inhibitor and are undergoing surgery or who require heparin for treatment of thrombosis . (wikidoc.org)
- [3] A significant proportion of the population has a detectable abnormality, but most of these only develop thrombosis in the presence of an additional risk factor. (ipfs.io)
Protein C or S deficiency1
- In neonatal purpura fulminans secondary to homozygous protein C or S deficiency, treat with FFP or protein C concentrate for 6-8wks until skin lesions have healed. (brainkart.com)
Genetic3
- Already the discovery of the first families presenting a defect in antithrombin (AT) led to the description of the genetic causes of this defect. (intechopen.com)
- The deficiency of the protein may be fatal and is prominent in case of patients suffering from an inherited deficiency, a genetic rare disease. (openpr.com)
- May be s to a genetic defect or vitamin B 12 or folate deficiency. (brainkart.com)
Resistance3
- In patients with antithrombin deficiency, they may develop resistance to unfractionated heparin, especially with continuous infusions. (wikipedia.org)
- Activated protein C (APC) is an anticoagulant formed in the vascular epithelium and limits haemostasis with cofactor protein S. Over 90% of APC resistance is due to factor V Leiden (FVL) deficiency (a polymorphism present in 2-5% of pop-ulation). (brainkart.com)
- 12. Subjects with a history of hypercoagulable disorders such as protein S or C deficiency, Factor 5 Leiden resistance, Antithrombin III deficiency, Antiphospholipid antibody syndrome, Heparin Induced Thrombocytopenia etc. (who.int)
ATIII5
- Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. (wikipedia.org)
- Antithrombin III (ATIII) is a nonvitamin K-dependent protease that inhibits coagulation by lysing thrombin and factor Xa. (medscape.com)
- and (3) the compared pattern of sequential ATIII, PC, and PS levels according to clinical outcome. (qxmd.com)
- In the group DIC+, all patients but two had severe deficiencies in ATIII and PC levels. (qxmd.com)
- Serial measurements were consistent with a prolonged ATIII and PC deficiency with significantly different levels between survivors and nonsurvivors. (qxmd.com)
Coagulation protein2
- Managing the right level of the coagulation protein antithrombin in human body is essential. (openpr.com)
- In addition, circumstances exist in which FFP has been employed and is believed to be of therapeutic value, but data supporting its efficacy are limited or unavailable (e.g., multiple coagulation protein deficiencies in the uncontrollably bleeding patient). (wikidoc.org)
Blood clots5
- Antithrombin III is a protein in the blood that blocks abnormal blood clots from forming. (medlineplus.gov)
- This low level of antithrombin III can cause abnormal blood clots (thrombi) that can block blood flow and damage organs. (medlineplus.gov)
- Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. (medlineplus.gov)
- Engineered recombinant antithrombin has gained clinical significant in recent years for the prevention of various peri-partum and peri-operative thromboembolic events or blood clots. (openpr.com)
- The substantial growth in these regional markets is attributed to the early adoption of recombinant antithrombins in preventing various clinical conditions caused by the prevention of blood clots. (openpr.com)
Anticoagulation3
- Antithrombin III activity is markedly potentiated by heparin, the principal mechanism by which both heparin and low molecular weight heparin result in anticoagulation. (medscape.com)
- previously referred to as antithrombin III) is a 58-kDa molecule belonging to the serine protease inhibitor (serpin) superfamily that plays a central role in anticoagulation and regulating appropriate wound healing in mammalian circulation systems. (medscape.com)
- Long-term anticoagulation with warfarin may be appropriate (aim for INR of 3-4). (brainkart.com)
Thrombin5
- Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. (medlineplus.gov)
- Functional assays that assess inhibitory activity on Xa have a higher sensitivity than those assessing thrombin, and some patients with type II AT deficiency have only slightly reduced or even normal function, thus increasing the complexity of its diagnosis. (medscape.com)
- When patients with a known inherited AT deficiency experience an acute thrombotic event and fail to respond to intravenous heparin, treatment with a direct thrombin inhibitor (eg, argatroban, dabigatran) is recommended. (medscape.com)
- Paul Morawitz at the University of Tubingen first coined the term antithrombin in 1905 to describe plasma's ability to neutralize thrombin activity. (medscape.com)
- As its name implies, antithrombin was first characterized as an inhibitor of thrombin. (medscape.com)
Vitamin B-12 defic1
- Vegetarians, particularly strict vegetarians, need to be aware of the risk of vitamin B-12 deficiency and other vitamin deficiencies. (medscape.com)
Heterozygous3
- Most neonates have heterozygous antithrombin III deficiency. (medscape.com)
- Type I, which is quantitative, results from heterozygous point mutations or major gene deletions leading to low antithrombin antigen and activity levels. (medscape.com)
- Whilst homozygous FVL deficiency will often present in children, heterozygous children are unlikely to experience a significant risk unless an additional prothrombotic risk factor is also present. (brainkart.com)
Severe4
- This deficiency is attributed to clinical conditions prevalent in patients affected by liver failure, metastatic tumors, severe trauma, and nephritic syndrome. (openpr.com)
- For example, hemostatic levels of factor IX in a patient with severe deficiency are difficult to achieve with FFP alone, whereas patients with severe factor X deficiency require factor levels of about 10 percent to achieve hemostasis and are easily treated with FFP. (wikidoc.org)
- It can be due to inherited protein C deficiency or acquired protein C deficiency in the setting of severe bacterial infection, commonly Neisseria meningitidis . (logicalimages.com)
- Protein C deficiency may cause purpura fulminans , a severe clotting disorder in the newborn that leads to both tissue death and bleeding into the skin and other organs. (ipfs.io)
Functional4
- The defects most frequently affect the proteins translation or post-translational processing, which results in decreased functional antithrombin III. (medscape.com)
- Type II (functional) is the result of altered antithrombin III activity. (medscape.com)
- For diagnosis, AT functional assay is the preferred initial study, to avoid missing type II deficiency. (medscape.com)
- Patients who are anticoagulated with warfarin are deficient in the functional vitamin K dependent coagulation factors II, VII, IX, and X, as well as proteins C and S. These functional deficiencies can be reversed by the administration of vitamin K. However, for anticoagulated patients who are actively bleeding or who require emergency surgery, FFDP (or single-donor plasma) can be used to achieve immediate hemostasis. (wikidoc.org)
Multiple coagulation1
- Although well-defined indications exist for the use of FFP in single or multiple coagulation deficiencies, indications for many of its other uses may be empiric. (wikidoc.org)
19651
- In 1965, Olav Egeberg described the first family with thrombotic disease due to inherited antithrombin deficiency, providing convincing evidence of the clinical importance of antithrombin. (medscape.com)
Antigen levels2
- however, the antithrombin III antigen levels are often within the reference range. (medscape.com)
- If AT function is abnormal, AT antigen levels are then measured, to distinguish between the two types of AT deficiency. (medscape.com)
Purpura fulminans1
- PF can be categorized into 3 types: acute infectious purpura fulminans, idiopathic or acquired purpura fulminans, and neonatal purpura fulminans . (logicalimages.com)
Disorder3
- Once a person is diagnosed with antithrombin III deficiency, all close family members should be screened for this disorder. (medlineplus.gov)
- Disorders Due to N-Acetylglucosamine-Phosphotransferase Deficiency I-Cell Disease (Mucolipidosis II) (MIM 252500) I-cell disease is a slowly progressive disorder with clinical onset at birth and a fatal outcome in childhood. (forextrading-madeeasy.com)
- Bleeding disorder refers to a heterogenous group of diseases caused by deficiencies in platelet function or coagulation factors. (ghcgenetics.com)
Clotting3
- Antithrombin III (AT III) is a protein that helps control blood clotting. (medlineplus.gov)
- Lower-than-normal AT III may mean you have an increased risk for blood clotting. (medlineplus.gov)
- Antithrombotic drugs help in the prevention or inhibition of thrombus by mimicking the role of antithrombin, a protein molecule produced in our body which helps in clotting. (openpr.com)
Point mutations1
- Numerous discrete point mutations of the antithrombin gene have been identified. (medscape.com)
Clinical3
- A clinical suspicion for antithrombin deficiency can be made in patients with: 1. (wikipedia.org)
- Several clinical studies and developments of novel targeted therapies are ongoing and boost the evolution of the Antithrombin market. (openpr.com)
- Nevertheless, recent advances in clinical studies in evaluating the potential of recombinant antithrombins in prolonging gestation so as to improve maternal and neonatal outcomes have opened up exciting opportunities for market players. (openpr.com)
Polymorphism1
- However, linkage analysis between a common DNA polymorphism and the antithrombin III deficiency trait showed that the defect lies at or close to the antithrombin III structural gene. (bmj.com)
Liver2
- Antithrombin is synthesized primarily in the liver. (medscape.com)
- The prognosis is poor in patients with Budd-Chiari syndrome who remain untreated, with death resulting from progressive liver failure in 3 months to 3 years from the time of the diagnosis. (medscape.com)
Amino acids1
- Plasma antithrombin is comprised of 432 amino acids, 6 of which are cysteine residues that form 3 intramolecular disulfide bonds. (medscape.com)
Autosomal1
- Antithrombin III deficiency is usually inherited in an autosomal dominant fashion. (medscape.com)
Necrotic skin1
- can cause (as with congential deficiency) necrotic skin bruises. (brainkart.com)
Prevalence2
- The prevalence of antithrombin deficiency is estimated at ~0.02 to 0.2% of the general population, and 1-5% of patients with venous thromboembolism. (wikipedia.org)
- The growing prevalence of this disease, both among men and women, is a key factor propelling the demand for antithrombin drugs and therapies. (openpr.com)
Heparin therapy1
- Moreover, patients undergoing heparin therapy and chemotherapy may also suffer from antithrombin deficiency. (openpr.com)
Patients10
- Common conditions that result in acquired antithrombin III deficiency include disseminated intravascular coagulation (DIC) , microangiopathic hemolytic anemias due to endothelial damage (ie, hemolytic-uremic syndrome ), and venoocclusive disease (VOD) in patients undergoing bone marrow transplantation . (medscape.com)
- The study involved 58 VTE patients under age 45 years, 45 of whom had at least one inherited risk factor, including 14 with antithrombin III deficiency. (medscape.com)
- Three patients required further readjustments. (go.jp)
- At 3 months after operation, another 3 patients required a single readjustment and all improved after this readjustment. (go.jp)
- Informed include lupus anticoagulant and anticardio- consent was obtained from patients and lipin antibodies [ 2,3 ]. (who.int)
- Antinuclear antithrombin, protein C, protein S or pres- antibodies were investigated with standard- ence of antiphospholipid antibodies, are ized enzyme-linked immunosorbent assay common in patients with retinal vein occlu- sions and may contribute to the etiology of (ELISA). (who.int)
- The protein molecules have also gained importance to boost the levels of Antithrombin in patients. (openpr.com)
- Furthermore, ATryn, the recently approved recombinant antithrombin by U.S. FDA, is found to have contraindications in patients who have hypersensitivity to goat milk proteins. (openpr.com)
- The empiric use of FFP to reverse hemostatic disorders should be confined to those patients in whom factor deficiencies are presumed to be the sole or principal derangement. (wikidoc.org)
- PF occurs with a bimodal incidence with peaks at 1-3 years (predominantly in patients with inherited protein C deficiency) and a second in adolescence (due to the increased incidence of N meningitidis in this group). (logicalimages.com)
Concentrates2
- Antithrombin concentrates have been used, though with risk of bleeding at large doses of unfractionated heparin. (wikipedia.org)
- These indications generally are limited to the treatment of deficiencies of coagulation proteins for which specific factor concentrates are unavailable or undesirable. (wikidoc.org)
Platelet2
- To overcome this limitation, we developed a fully three-dimensional multiscale model for platelet aggregation under flow and validated model predictions against experimental observations in prior work [ 9 ]. (frontiersin.org)
- and (3) inherited platelet disorders (PMID: 24124085). (ghcgenetics.com)
Molecule1
- The more common qualitative type II AT deficiency is characterized by normal AT levels and reduced function and is further categorized into IIa, b, or c, depending on which part of the AT molecule is affected by the mutation. (medscape.com)
Mutation1
- These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is the cause of inherited antithrombin III deficiency in some families. (bmj.com)
Diseases2
- These examples are all part of the conformational diseases that may occur in all SERPIN class enzymes (see Alpha-1 Antitrypsin Deficiency ). (medscape.com)
- In addition, the growing incidence of various cardiovascular diseases is expected to propel the demand for recombinant antithrombins in various countries of Asia Pacific. (openpr.com)
Thrombophilias1
- Known thrombophilias (eg, protein C deficiency, protein S or antithrombin III). (emas-online.org)
Neonatal1
- However, the limited efficacy of antithrombin to improve neonatal outcomes is likely to impede the market to an extent. (openpr.com)
Antibodies1
- Acquired deficiencies are commonly due to increased coagulation secondary to endothelial injury or the presence of antiphospholipid (AP) antibodies (eg, lupus anticoagulant). (medscape.com)
Primarily1
- Acquired antithrombin III deficiency is a deficiency of antithrombin primarily due to consumption. (medscape.com)
Levels2
- Correcting AT levels using antithrombin concentrate products is recommended for planned major surgery. (medscape.com)
- this risk is most pronounced in the first 3 weeks after delivery, decreasing to near baseline levels by 42 days postpartum ( 90 - 94 ). (cdc.gov)
Secondary1
- This type is due to an acquired deficiency of protein C secondary to the consumption of profibrinolytic cofactors. (logicalimages.com)