Affiliations: Department of Pediatrics, Division of Pediatric Nephrology, University of Miami, Holtz Children's Hospital at Jackson Health System, Miami, FL, USA | Department of Pediatrics, Pediatric Postgraduate Training Program, University of Miami, Holtz Children's Hospital at Jackson Health System, Miami, FL, USA | Department of Pediatrics, Critical Care Medicine, University of Miami, Holtz Children's Hospital at Jackson Health System, Miami, FL, USA
Note: [] Corresponding author: Carolyn L. Abitbol, M.D., Division of Pediatric Nephrology, University of Miami/Holtz Children's Hospital, (R-714), P.O. Box: 016960, Miami, Florida 33101, USA. Tel.: +1 305 585 6726; Fax: +1 305 585 7025; E-mail: [email protected]
Abstract: Familial hemophagocytic lymphohistiocytosis is a rare, life-threatening disorder characterized by impaired cytotoxicity, hypercytokinemia and immune-mediated organ injury. We report a 7-week-old male of consanguineous parents who presented with fever, pancytopenia and multi-organ failure. Elevated inflammatory markers and hypercytokinemia led to the diagnosis of familial hemophagocytic lymphohistiocytosis, which was confirmed with genetic testing. With the fulminant multiorgan failure, therapeutic plasma exchange was instituted, using the Prismaflex® platform, followed by standard chemo-immunotherapy. There was dramatic reversal of the multi-organ failure and stabilization of the coagulopathy with this neo-adjuvant therapy. Thereafter, he was maintained in clinical remission with chemo-immunotherapy for 3 mo while awaiting stem cell transplantation.
