Stapp Joan, Wilkerson Shirley, Stewart Dan, Coventry Susan, Mo Jun Qin, Bove Kevin E
Department of Pediatrics, Division of Neonatal Medicine, University of Louisville School of Medicine, KY, and Division of Pathology, Cincinnati Children's Hospital Medical Center, OH, USA.
Pediatr Dev Pathol. 2006 May-Jun;9(3):239-44. doi: 10.2350/06-01-0005.1.
Familial hemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder of immune regulation characterized by fever, splenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. Although presentation usually occurs during the first 2 years of life, congenital presentation is rare. We report siblings with a presumptive diagnosis of familial HLH who presented with hydrops fetalis and severe hepatic involvement ultimately resulting in their deaths. This report emphasizes the difficulty of confirming the diagnosis of HLH. However, establishing the diagnosis has important implications for genetic counseling and family planning. HLH should be considered in the setting of perinatal liver failure. The immunologic basis of the disease is incompletely understood but testing for natural killer cell function, and perforin defects may be helpful in establishing a diagnosis. HLH can be treated with chemotherapy, immunotherapy, and stem cell transplantation.
