title: Aceruloplasminaemia: a rare but important cause of iron overload.
abstract: We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
authors.affiliation: Department of Gastroenterology and Hepatology, Monash Health, Melbourne, Victoria, Australia.
authors.forename: Adam
authors.initials: A
authors.lastname: Doyle
authors.affiliation: Department of Gastroenterology and Hepatology, Monash Health, Melbourne, Victoria, Australia.
authors.forename: Ferry
authors.initials: F
authors.lastname: Rusli
authors.affiliation: Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Prithi
authors.initials: P
authors.lastname: Bhathal
mesh_terms: D000328:Adult; D001565:Benzoates / Q000627:therapeutic use*; D002570:Ceruloplasmin / Q000172:deficiency*; D015913:Chelation Therapy / Q000379:methods*; D000077588:Deferasirox; D018450:Disease Progression; D042241:Early Diagnosis; D005293:Ferritins / Q000097:blood*; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use*; D019189:Iron Metabolism Disorders / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D019190:Iron Overload / Q000097:blood / Q000175:diagnosis* / Q000503:physiopathology; D008099:Liver / Q000378:metabolism* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology / Q000517:prevention & control*; D016896:Treatment Outcome; D014230:Triazoles / Q000627:therapeutic use*
chemical_list: D001565:Benzoates; D007502:Iron Chelating Agents; D014230:Triazoles; D005293:Ferritins; D002570:Ceruloplasmin; D000077588:Deferasirox