Lab Med Online.  2011 Apr;1(2):110-114. 10.3343/lmo.2011.1.2.8.

A Case of Hemophagocytic Lymphohistiocytosis with Clonal Karyotype Abnormalities

  • 1Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.


There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.


Hemophagocytic lymphohistiocytosis; Epstein-Barr virus cytomegalovirus; Chromosomal abnormality
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