title: New insights into paroxysmal nocturnal hemoglobinuria.
abstract: Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon acquired hemolytic anemia that manifests with abdominal pain, esophageal spasm, fatigue, and thrombosis. The hallmark of PNH at the cellular level is a deficiency in cell surface glycosylphosphatidylinositol anchored proteins; this deficiency on erythrocytes leads to intravascular hemolysis. Free hemoglobin from hemolysis leads to circulating nitric oxide depletion and is responsible for many of the clinical manifestations of PNH, including fatigue, erectile dysfunction, esophageal spasm, and thrombosis. The recently FDA approved complement inhibitor eculizumab has been shown to decrease hemolysis, decrease erythrocyte transfusion requirements, and improve quality of life for PNH patients.
authors.affiliation: The Division of Pediatric Hematology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. wsavage1@jhmi.edu
authors.forename: William J
authors.initials: WJ
authors.lastname: Savage
authors.forename: Robert A
authors.initials: RA
authors.lastname: Brodsky
mesh_terms: D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized; D017261:Glycosylphosphatidylinositols / Q000235:genetics; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D006461:Hemolysis / Q000187:drug effects; D006801:Humans; D009569:Nitric Oxide / Q000502:physiology
chemical_list: D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D017261:Glycosylphosphatidylinositols; D009569:Nitric Oxide; C481642:eculizumab