Hemophagocytic lymphohistiocytosis is a syndrome characterized by fever, hepatosplenomegaly, hypofibrinogenemia, hypertriglyceridemia, and cytopenia, with hemophagocytosis in bone marrow, spleen or lymph nodes. The glycogen storage disease type Ia case we present had the parameters specific for hemophagocytic lymphohistiocytosis, and the bone marrow aspiration revealed histiocytic proliferation and erythrophagocytosis. The association of hemophagocytic lymphohistiocytosis and metabolic diseases has been reported before. Our case and other hemophagocytic lymphohistiocytosis cases associated with metabolic diseases show that the activation of the reticuloendothelial system may be triggered by metabolic decompensation.

Keywords: hemofagositoz, histiyositoz, glikojen depo hastalığı, metabolik hastalıklar.