Familial Hemophagocytic Lymphohistiocytosis.
- Author:
Dong Un KIM
;
Dae Kyun KOH
;
Yeon Dong LEE
;
Jae Kyun HUR
;
Kyoo Hong CHO
;
Suk Jin KANG
- Publication Type:Case Report
- MeSH:
Bone Marrow;
Fever;
Humans;
Hypertriglyceridemia;
Lymphocyte Subsets;
Lymphocytes;
Lymphohistiocytosis, Hemophagocytic*;
Male;
Rare Diseases;
Serum Albumin;
Siblings
- From:Journal of the Korean Pediatric Society
1994;37(9):1279-1285
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticulendothelial organs. We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytopenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of them showed markedly decreased phytohemagglutinin induced lymphocyte proliferation and reversed CD4/CD8 ratio (0.52) in flowcytometric lymphocyte subset analysis. Aspirate of bone marrow revealed typical features consistent with FHL in two of them. In spite of recent therapeutic approaches, none of them survived.
