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Published on: November 11, 2021
Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report
Emma C Manno1, Irene Salfa, Paolo Palma
1*Unit of Immunology and Infectious Disease, University-Hospital Pediatric Department †Department of Pediatric Hematology/Oncology, Bambino Gesù Children Hospital, IRCCS, Tor Vergata University, Rome ‡Department of Pediatric Hematology Oncology, Azienda Ospedaliero Universitaria Meyer Children Hospital, Florence, Italy.
Abstract:
Familial hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition characterized by immune hyperactivation and clinical signs of extreme inflammation. We describe a 7-year-old male who presented with fever resistant to antibiotic therapy, pancytopenia, splenomegaly, hypertriglyceridemia, and hyperferritinemia. Bone marrow aspirate showed hemophagocytosis. Epstein-Barr virus genome was positive in blood. Functional screening showed reduced capacity of cytotoxic degranulation. Mutation analysis of the FHL-related genes revealed compound heterozygous for UNC13D mutations: c. 753+1G>T, and the novel c.544C>T (p.P182S). Patients with a clinical presentation of HLH, even if older than typically seen, should be screened for familial HLH by mutation analysis.
