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Familial hemophagocytic lymphohistiocytosis

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Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistocytic pleocytosis with increased protein levels in the cerebrospinal fluid. Characteristic laboratory findings in FHL are hypertriglyceridemia and hypofibrinogenemia, which are reversible with treatment. The disease has been rapidly fatal in most patients, but recently longterm remissions have been achieved with cytotoxic agents.

Pathohistologic examination shows a widespread infiltrate of lymphocytes and mature macrophages with prominent hemophagocytosis affecting especially liver, spleen, lymph nodes and the central nervous system. Atrophy of the lymphatic tissue is a common finding. From the histologic picture FHL has to be grouped among the histiocytoses of reactive origin since the cells involved show no signs of malignancy.

The etiology and pathogenesis of FHL are not known at present. Immunologic studies present evidence for a disturbed function of T lymphocytes, but a secondary immune defect seems to be more likely than primary immune deficiency.

Among the broad clinical spectrum of histiocytic disorders especially histiocytic reactions due to infection, histiocytosis X and malignant histiocytosis have to be considered in the differential diagnosis of FHL.

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  1. G. E. Janka

    Present address: Department of Hematology and Oncology, Childrens's Hospital, University of Hamburg, D-2000, Hamburg, FRG

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  1. Division of Hematology and Oncology, Children's Hospital, University of Munich, Germany

    G. E. Janka

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Curriculum vitae. Gritta Janka was born in 1944 in Bayrischzell, Federal Republic of Gemany. She graduated from the Medical Faculty of the Ludwig-Maximilian University, Munich, in 1969 and 2 years later started her training in pediatric hematology and oncology at the Children's Hospital of the University of Munich, with a grant from the Deutsche Forschungsgemeinschaft. In 1972 she received a fellowship in pediatric oncology from the Sidney Farber Cancer Center, Harvard University, Boston. From 1974 to 1982 she was resident and fellow in pediatrics as weel as asociate to the Division of Pediatric Hematology and Oncology at the Children's Hospital of the University of Munich. In 1982 she habilitated in pediatrics. Since October 1982 she has been working at the Department of Hematology and Oncology at the Children's Hospital of the University of Hamburg

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Janka, G.E. Familial hemophagocytic lymphohistiocytosis. Eur J Pediatr 140, 221–230 (1983). https://doi.org/10.1007/BF00443367

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