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Familial hemophagocytic lymphohistiocytosis

Journal of Perinatology volume 30, pages 363–365 (2010)Cite this article

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In this infant, the absence of NK cell activity, hyperferritanemia, hepatosplenomegaly and family history were consistent with familial hemophagocytic lymphohistiocytosis (F-HLH). F-HLH is a rare autosomal recessive condition of T-cell dysfunction characterized by widespread accumulation of lymphocytes and mature macrophages, sometimes with hemophagocytosis, primarily in the liver, spleen, bone marrow and frequently the central nervous system (CNS).1, 2 The imaging findings of hepatosplenomegaly, periportal hyperechogenicity, gallbladder wall thickening, ascites and pleural effusions also were consistent with the diagnosis.3 This infant had a normal head sonogram, although perivascular and meningeal infiltration are also common findings in F-HLH.4 Defective NK cell cytotoxicity is a hallmark of this disease. NK cells kill by releasing small cytoplasmic granules of proteins called perforin and granzyme, which cause the target cell to die by apoptosis or necrosis. Deficits in perforin, seen in F-HLH (see below) are associated with a decrease in NK cells. Because NK cell function or activity is decreased in up to 90% of patients, it is one of the most useful laboratory test in the diagnosis of F-HLH.

The incidence of F-HLH is about 1 in 50 000 live births. Hemophagocytic lymphohistiocytosis may be familial and inherited as an autosomal recessive condition, known as F-HLH, or secondary. Secondary hemophagocytic lymphohistiocytosis is usually associated with or preceded by an immune deficiency, severe infection or malignancy. Other conditions associated with the development of secondary hemophagocytic lymphohistiocytosis include leukemia, lymphoma, severe combined immune deficiency syndrome, Chediak–Higashi syndrome, Griscelli syndrome, Wiskott–Aldrich syndrome, lysinuric protein deficiency and Kikuchi disease (histiocytic necrotizing lymphadenitis).2, 5

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Familial hemophagocytic lymphohistiocytosis. J Perinatol 30, 363–365 (2010). https://doi.org/10.1038/jp.2010.25

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