Familial Erythrophagocytic Lymphohistiocytosis in Siblings.
- Author:
Eun Sook LEE
1
;
Ji Eun CHOI
;
Dug Ha KIM
;
Hae Ran LEE
;
Chong Young PARK
Author Information
1. Department of Pediatrics, College of Medicine, Hallyn University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Familial Erythrophagocytic Lymphohistiocytosis;
Autopsy
- MeSH:
Autopsy;
Bone Marrow;
Diagnosis;
Disease Susceptibility;
Fever;
Hemorrhage;
Histiocytes;
Humans;
Hypertriglyceridemia;
Lymphohistiocytosis, Hemophagocytic*;
Macrophages;
Multiple Organ Failure;
Neurologic Manifestations;
Pancytopenia;
Siblings*
- From:Journal of the Korean Pediatric Society
1995;38(3):428-434
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Familial erythrophagocytic lymphohistiocytosis(FEL) is an uncommon disorder characterized by multi-organ infiltration with phagocytic histiocytes and macrophages. It is a familial discorder presenting during infancy or young childhood with fever, hepartosplenomegaly, pancytopenia, bleeding diathesis, hypertriglyceridemia and neurologic manifestations. The course of the disease is extremely lethal and diagnosis of the disease during lifetime is very difficult. Exact diagnosis can only be made by autopsy. We experienced FEL cases in siblings, who had fever, hepatosplenomegly, pancytopenia, and hypertriglyceridemia. Bone marrow study showed increased histiocytes with active hemophagocytosis. They were died due to multiple organ failure, and the diagnosis was confirmed by autopsy, so we report it and review the related literatures.
