Two Cases With Familial Hemophagocytic Lymphohistiocytosis

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a fatal condition of severe hyperin-flammation that results from an uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory cytokines. The perforin gene mutation was the first genetic deffect to be described in association with HLH. HLH is a distinct clinical entity characterized by fever, pancytopenia, splenomegaly and hemophagocytosis in bone marrow, liver or lymph nodes. We present phenotypical and labaratory description of two patients with familial HLH. The diagnosis of HLH was made according to the guidelines of the Histiocyte Society. Fever was present in two patients with hemophagocytic lymphohistiocytosis. The other most common symptoms were malaise and weight loss. Hepatosplenomegaly was present in two patients. Hemophagocytosis was documented in bone marrow examinations of two cases. Thrombocytopenia, neutropenia, hypertriglyceridemia and hyperferritinemia were found in two patients. Genetic analysis of the patients were performed, with the coding region of the perforin gene. Our cases had perforin gene muatation. HLH is a rare but mortal disease when not treated on time. Awareness of clinical symptoms and diagnostic criteria of HLH, initiation of early immunosuppressive treatment; life-saving as well as allowing for stem cell transplantation. © 2018 by Türkiye Klinikleri.