The Syndrome of the Sea-Blue Histiocyte

Silverstein, Murray N.; Ellefson, Ralph D.; Ahern, E.

doi:10.1056/nejm197001012820101

Cited by 133 publications

(67 citation statements)

References 10 publications

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“…1 This type of splenomegaly has been described in several conditions, including cholesterol ester storage disease and other lysosomal disorders (Niemann-Pick, Gaucher diseases), severe hypertriglyceridemia, lecithin-cholesterol acyltransferase deficiency and Tangier diseases. 2 In two patients, splenomegaly with sea-blue histiocytes was shown to be associated with thrombocytopenia and mild hypertriglyceridemia, and to result from a 3 bp deletion of the APOE gene. This in-frame deletion induces the loss of the leucine residue at position 149 within the receptor-binding region of the apoE.…”

Section: Introductionmentioning

confidence: 99%

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

et al. 2005

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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 b 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.

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Section: Introductionmentioning

confidence: 99%

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

et al. 2005

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“…Sea-blue histiocyte is a macrophage that contains varying numbers of cytoplasmic granules imparting a distinct blue color on Wright's-Giemsa stain (4). In 1970, Silverstein et al have described the syndrome of sea-blue histiocytes, characterized the presence of large foamy macrophagic cells in the bone marrow, spleen, and sometimes liver and lungs (5,6). SBH can be seen in different diseases of which hematological involvement such as chronic myeloid leukemia, idiopathic thrombocytopenic purpura, and myelodysplastic syndromes and metabolic involvement such as NPD and Gaucher diseases (6)(7)(8)(9).…”

Section: Discussionmentioning

confidence: 99%

Pulmonary involvement in sea-blue histiocytosis

Günay¹,

S²,

Aktaş³

et al. 2012

Tuberk Toraks

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“…Sea-blue histiocytes were first described by Möschlin in 1947 1 . In 1970, Silverstein initially reported the syndrome of sea-blue histiocytosis 2 . Sea-blue histiocytosis, which is observed in multiple lipid metabolic diseases, is typically classified as primary or secondary.…”

Section: Discussionmentioning

confidence: 99%

“…In 1970, Silverstein reported the syndrome of sea-blue histiocytosis 2 . This disorder is classified as either primary or secondary ; most cases are secondary to lipid metabolic diseases, such as Niemann-Pick disease, Fabry' s disease, or ceroid storage diseases [3][4][5] .…”

Section: Introductionmentioning

confidence: 99%

Secondary Sea-blue Histiocytosis Derived from Niemann-Pick Disease

Сузукі

Abe

2007

J Clin Exp Hematopathol

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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.

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The Syndrome of the Sea-Blue Histiocyte

Cited by 133 publications

References 10 publications

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

Pulmonary involvement in sea-blue histiocytosis

Secondary Sea-blue Histiocytosis Derived from Niemann-Pick Disease

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