J Korean Pediatr Soc.  1995 Mar;38(3):428-434.

Familial Erythrophagocytic Lymphohistiocytosis in Siblings

• Lee ES
• Choi JE
• Kim DH
• Lee HR
• Park CY

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.

Keyword

Familial Erythrophagocytic Lymphohistiocytosis; Autopsy

MeSH Terms

Autopsy
Bone Marrow
Diagnosis
Disease Susceptibility
Fever
Hemorrhage
Histiocytes
Humans
Hypertriglyceridemia
Lymphohistiocytosis, Hemophagocytic*
Macrophages
Multiple Organ Failure
Neurologic Manifestations
Pancytopenia
Siblings*