| H01168 | |
| H number | H01168 |
| Name | Sea-blue histiocyte disease |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | APOE [HSA:348] [KO:K04524] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Most cases of sea-blue histiocytosis are secondary to lipid metabolic diseases, such as Niemann-Pick disease [DS:H00136], Fabry disease [DS:H00125], or ceroid strage diseases. |
| Other DBs | ICD-11: EK92 ICD-10: D76.3 MeSH: D012618 OMIM: 269600 |
| Reference | PMID:9613982 AUTHORS Bigorgne C, Le Tourneau A, Vahedi K, Rio B, Messing B, Molina T, Audouin J, Diebold J TITLE Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition. JOURNAL Leuk Lymphoma 28:523-9 (1998) DOI:10.3109/10428199809058360 PMID:17510534 AUTHORS Suzuki O, Abe M TITLE Secondary sea-blue histiocytosis derived from Niemann-Pick disease. JOURNAL J Clin Exp Hematop 47:19-21 (2007) DOI:10.3960/jslrt.47.19 PMID:16094309 AUTHORS Faivre L, Saugier-Veber P, Pais de Barros JP, Verges B, Couret B, Lorcerie B, Thauvin C, Charbonnier F, Huet F, Gambert P, Frebourg T, Duvillard L TITLE Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation. JOURNAL Eur J Hum Genet 13:1186-91 (2005) DOI:10.1038/sj.ejhg.5201480 PMID:11095479 AUTHORS Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T TITLE Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. JOURNAL J Clin Endocrinol Metab 85:4354-8 (2000) DOI:10.1210/jcem.85.11.6981 |