title: Hepatic iron overload in aceruloplasminaemia.
abstract: We report the case of a 52 year old male with diabetes mellitus and long standing evidence of hepatic iron excess. Initially considered to have haemochromatosis, this patient was reevaluated when hepatic iron stores were found to be unaffected by a prolonged course of weekly phlebotomy. The development of neurological disease prompted diagnostic consideration of aceruloplasminaemia, which we confirmed by demonstration of a novel frameshift mutation in the ceruloplasmin gene. Our inability to resolve the patient's iron overload by regular phlebotomy is consistent with recent animal studies indicating an essential role for ceruloplasmin in cellular iron efflux. Evaluation of this case underscores the clinical relevance of aceruloplasminaemia in the differential diagnosis of hepatic iron overload and provides insight into the pathogenetic mechanisms of hepatocellular iron storage and efflux.
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
authors.forename: N E
authors.initials: NE
authors.lastname: Hellman
authors.forename: M
authors.initials: M
authors.lastname: Schaefer
authors.forename: S
authors.initials: S
authors.lastname: Gehrke
authors.forename: P
authors.initials: P
authors.lastname: Stegen
authors.forename: W J
authors.initials: WJ
authors.lastname: Hoffman
authors.forename: J D
authors.initials: JD
authors.lastname: Gitlin
authors.forename: W
authors.initials: W
authors.lastname: Stremmel
mesh_terms: D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D048909:Diabetes Complications; D003937:Diagnosis, Differential; D016368:Frameshift Mutation / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D008297:Male; D008875:Middle Aged
chemical_list: D002570:Ceruloplasmin