Sea-Blue Histiocyte Syndrome
Histiocytes
Purpura, Thrombocytopenic, Idiopathic
Histiocytosis
Pulmonary involvement in Niemann-Pick disease: case report and literature review. (1/9)
Niemann-Pick disease (NPD) is a rare, inherited, autosomal recessive, lipid storage disease. The pathognomonic intracellular accumulation of sphingomyelin results in the production and accumulation of 'foam cells'. Interstitial lung disease is a rare manifestation of NPD. We present the case of a 48-year-old white female with NPD involving the lungs, liver and spleen. The chest radiograph showed bilateral, predominantly basal reticulonodular infiltrates and serial pulmonary function tests over a period of years showed preserved expiratory airflow and a severely decreased diffusion capacity for carbon monoxide (DLCO). In view of her visceral involvement, lack of neurological symptoms and survival into adulthood, we believe our patient represents a case of type B NPD. In this type of NPD, aside from prominent hepatosplenomegaly and sexual immaturity, significant pulmonary infiltration with 'Pick cells' has been reported. To date, no therapeutic modality has been shown to alter the natural history of this disease, which results in progressive debilitation and death. This case is unique in that it provides the longest physiological follow-up in the literature, and provides data on the natural history of pulmonary involvement in NPD. (+info)Successful pregnancy in a patient with familial sea-blue histiocyte syndrome. (2/9)
A 27-year-old Indian woman at 23 weeks' gestation presented with decompensated liver cirrhosis, coagulopathy, restrictive lung disease with cor pulmonale and preeclampsia. She was diagnosed to have sea-blue histiocyte syndrome (SBHS) at the age of 13 years and was treated conservatively. There was worsening liver, respiratory and bone marrow function as the pregnancy progressed. She underwent a successful pregnancy despite her poor medical condition and advanced disease state. We described the first case of familial SBHS in a pregnant patient from Asia. (+info)Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation. (3/9)
Splenomegaly with sea-blue histiocytes, thrombocytopenia and hypertriglyceridemia is a very rare association that has been described in only one report to date. The molecular defect in the two reported patients consists in a deletion of a leucine at position 149 in the receptor-binding region of the apoE molecule. Here, we report on another family in whom the proband and his brother were diagnosed with splenomegaly, thrombocytopenia and hypertriglyceridemia. An apoE p.Leu149del mutation was found in both subjects. A large beta band in the VLDL fraction and elevated VLDL cholesterol-to-plasma triglyceride ratio was observed in the proband only. Their mother, presenting with isolated hypertriglyceridemia, also carried the same p.Leu149del mutation. The coexistence of factors facilitating the development of hypertriglyceridemia and/or low HDL-cholesterol level could explain why the proband and his brother developed a splenomegaly with thrombocytopenia, whereas the mother did not. Moreover, the presence of an apoE2 allele in the proband likely explains the more severe phenotype we observed in this subject. In conclusion, the apoE p.Leu149del mutation results in a very striking phenotype including one or all symptoms among splenomegaly, thrombocytopenia and hypertriglyceridemia, and should be considered as a differential diagnosis of storage disorders in the causes of splenomegaly with sea-blue histiocytes. (+info)Secondary sea-blue histiocytosis derived from Niemann-Pick disease. (4/9)
Sea-blue histiocytosis is a rare disorder seen in patients with lipid metabolic or ceroid storage diseases. Sea-blue histiocytes are ceroid-laden macrophages detectable by May-Giemsa staining. We report a case of a 28-year-old woman diagnosed with Niemann-Pick disease at 2 or 3 years of age. To confirm this diagnosis, we examined her bone marrow, which revealed scattered foci containing aggregates of foamy macrophages. May-Giemsa staining identified blue-staining foamy macrophages, referred to as sea-blue histiocytes. In summary, we report the detection of sea-blue histiocytosis in an adult with Niemann-Pick disease. (+info)Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. (5/9)
Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation. (+info)Pulmonary involvement in sea-blue histiocytosis. (6/9)
Sea-blue histiocytosis is one of the six types of Niemann-Pick disease. It is characterized by childhood onset of hepatosplenomegaly, lack of neurological involvement and diminished sphingomyelinase activity. Pulmonary system is rarely involved sea-blue histiocytosis. In this paper, we present a 39-years-old male who had previously diagnosed as sea-blue histiocytosis at the age of 15. He was admitted to our clinic due to productive cough, hemoptysis, fever and weight loss. His symptoms did not resolve with the antibiotic treatment and further investigations revealed pulmonary involvement of sea-blue histiocytosis. After diagnostic bronchoalveolar lavage, his symptoms were improved, interestingly. This rare entity was discussed with literature survey. (+info)Sea blue histiocytosis: a common abnormality of the bone marrow in myelodysplastic syndromes. (7/9)
AIMS: To determine whether myelodysplastic syndromes (MDS) are associated with sea blue histiocytosis in the bone marrow. METHODS: A retrospective review of bone marrow aspirates from 35 patients presenting consecutively with MDS and from 20 patients with each of the following: normal marrow appearance (routine staging for non-Hodgkin's lymphoma), polycythaemia rubra vera, immune thrombocytopenic purpura (ITP), chronic myeloid leukaemia (CML) in chronic phase. RESULTS: Sea blue histiocytes were present in the marrow in 12 of 35 cases of MDS and occurred in large numbers in three of these cases. Sea blue histiocytes varied in the degree of cytoplasmic granularity and some cells were intermediate in appearance between classic sea blue histiocytes and pseudo-Gaucher cells. Sea blue histiocyte granules additionally stained positively with Sudan black and periodic acid schiff. Sea blue histiocytes occurred only in the presence of marrow hypercellularity. Their presence did not correlate with FAB subtype, degree of dyserythropoeisis, or megakaryocyte numbers. No sea blue histiocytes were found in the normal marrow or polycythaemia cases. In ITP sea blue histiocytes were seen in two of 20 cases and in chronic myeloid leukaemia in eight of 20 cases. CONCLUSIONS: Sea blue histiocytes are a common cytological feature in the bone marrow of patients with MDS. As other disorders frequently associated with marrow sea blue histiocytes are relatively rare MDS is probably the most common cause of this phenomenon in a northern European population. (+info)Pulmonary fibrosis and sea-blue histiocyte infiltration in a patient with primary myelofibrosis. (8/9)
The authors present the case of a 73 year old man with primary myelofibrosis, pulmonary fibrosis, and acquired sea-blue histiocytosis, who died of respiratory failure. Pathology of the lungs revealed infiltration by sea-blue histiocytes, and fibrosis in the alveolar septa, and clumps of these cells filling the alveolar spaces. Megakaryocytes were also occasionally observed in the alveolar capillaries. (+info)Sea-Blue Histiocyte Syndrome is a rare, inherited disorder characterized by the accumulation of abnormal histiocytes (a type of white blood cell) in various organs and tissues of the body. The histiocytes have a distinctive appearance, with small vacuoles or "blebs" that give them a foamy or bubbly appearance under the microscope, leading to the name "Sea-Blue."
The syndrome is typically diagnosed in childhood or adolescence and is often associated with neurological symptoms such as ataxia (loss of coordination), seizures, and developmental delay. Other features may include anemia, splenomegaly (enlarged spleen), and bone changes leading to fractures.
Sea-Blue Histiocyte Syndrome is caused by mutations in the SPTPS gene, which provides instructions for making a protein involved in the production of lysosomes, structures inside cells that help break down waste products. The genetic defect leads to an accumulation of lipids and other substances within the histiocytes, causing their characteristic appearance.
Treatment for Sea-Blue Histiocyte Syndrome is generally supportive and aimed at managing symptoms as they arise. This may include physical therapy, medications to control seizures or neurological symptoms, and orthopedic interventions for bone fractures. In some cases, stem cell transplantation may be considered as a treatment option.
Histiocytes are a type of immune cell that are part of the mononuclear phagocyte system. They originate from monocytes, which are derived from hematopoietic stem cells in the bone marrow. Histiocytes play an important role in the immune system by engulfing and destroying foreign substances, such as bacteria and viruses, as well as removing dead cells and other debris from the body. They can be found in various tissues throughout the body, including the skin, lymph nodes, spleen, and liver.
Histiocytes include several different types of cells, such as macrophages, dendritic cells, and Langerhans cells. These cells have different functions but all play a role in the immune response. For example, macrophages are involved in inflammation and tissue repair, while dendritic cells are important for presenting antigens to T cells and initiating an immune response.
Abnormal accumulations or dysfunction of histiocytes can lead to various diseases, such as histiocytosis, which is a group of disorders characterized by the abnormal proliferation and accumulation of histiocytes in various tissues.
Idiopathic Thrombocytopenic Purpura (ITP) is a medical condition characterized by a low platelet count (thrombocytopenia) in the blood without an identifiable cause. Platelets are small blood cells that help your body form clots to stop bleeding. When you don't have enough platelets, you may bleed excessively or spontaneously, causing purpura, which refers to purple-colored spots on the skin that result from bleeding under the skin.
In ITP, the immune system mistakenly attacks and destroys platelets, leading to their decreased levels in the blood. This condition can occur at any age but is more common in children following a viral infection, and in adults after the age of 30-40 years. Symptoms may include easy or excessive bruising, prolonged bleeding from cuts, spontaneous bleeding from the gums or nose, blood blisters, and small red or purple spots on the skin (petechiae).
Depending on the severity of thrombocytopenia and the presence of bleeding symptoms, ITP treatment may include observation, corticosteroids, intravenous immunoglobulin (IVIG), or other medications that modify the immune system's response. In severe cases or when other treatments are ineffective, surgical removal of the spleen (splenectomy) might be considered.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Histiocytosis is a term used to describe a group of rare disorders characterized by an abnormal increase in the number of histiocytes, which are a type of white blood cell that helps fight infection and helps in healing processes. These disorders can affect various organs and tissues in the body, leading to different symptoms and severity.
There are several types of histiocytosis, including Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and hemophagocytic lymphohistiocytosis (HLH). Each type has its own specific features and diagnostic criteria.
For example, LCH is characterized by the abnormal accumulation of Langerhans cells, a type of histiocyte found in the skin and mucous membranes. These cells can form tumors or lesions in various organs, such as the bones, lungs, liver, and skin.
HLH, on the other hand, is a life-threatening condition that occurs when there is an overactive immune response leading to excessive activation of histiocytes and other immune cells. This can result in fever, enlargement of the liver and spleen, and decreased blood cell counts.
The exact cause of histiocytosis is not fully understood, but it is believed to involve genetic mutations that lead to uncontrolled proliferation and accumulation of histiocytes. Treatment for histiocytosis depends on the type and severity of the disorder and may include chemotherapy, radiation therapy, immunosuppressive drugs, or stem cell transplantation.