Sea-blue histiocyte disease

Definition:

Sea-blue histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes are observed in many organs including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; most cases are secondary to lipid metabolic diseases. A mutation in the APOE gene has been reported.

References:

[1]. C Bigorgne, et al. Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition. Leuk Lymphoma. 1998 Feb;28(5-6):523-9. [Content Brief]

[2]. Laurence Faivre, et al. Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation. Eur J Hum Genet. 2005 Nov;13(11):1186-91. [Content Brief]

[3]. Osamu Suzuki, et al. Secondary sea-blue histiocytosis derived from Niemann-Pick disease. J Clin Exp Hematop. 2007 Apr;47(1):19-21. [Content Brief]

[4]. T T Nguyen, et al. Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. J Clin Endocrinol Metab. 2000 Nov;85(11):4354-8. [Content Brief]

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