Here I present: “Hemophagocytic Lymphohistiocytosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HLH) 噬血細胞性淋巴組織細胞增生症。 icd10=D76.1
INTRODUCTION.
Hemophagocytic lymphohistiocytosis (HLH), is an autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes & macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. HLH, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation.
There is evidence that hemophagocytic lymphohistiocytosis (HLH) is caused by mutation in familial hemophagocytic lymphohistiocytosistype-1 (FHL1) gene encoded on cytogenetic location 9q21.31 and genomic coordinate 9:78,500,001.
