title: A 32-year-old patient with hemolytic anemia and fulminant hepatic failure.
abstract: Wilson's disease presenting as acute hemolytic anemia and fulminant hepatic failure is a rare and poorly recognized disorder. We report a patient who developed hemolytic anemia and fulminant hepatic failure as the initial manifestations of Wilson's disease. The diagnosis was established by the findings of low serum ceruloplasmin, elevated urinary copper and elevated hepatic copper concentration. Liver transplantation is the only effective means of treatment in patients presenting with Wilsonian fulminant hepatic failure. Despite intensive medical therapy our patient had a fatal outcome before transplantation could be undertaken. The objective of this report is to discuss the clues to diagnosis in this form of Wilson's disease, as delay in diagnosis seems to be responsible for the high mortality.
authors.affiliation: Department of Internal Medicine, University of Connecticut Health Center, Farmington, Connecticut, USA.
authors.forename: Smitha
authors.initials: S
authors.lastname: Mellacheruvu
authors.forename: Cunegundo
authors.initials: C
authors.lastname: Vergara
mesh_terms: D000328:Adult; D000743:Anemia, Hemolytic / Q000175:diagnosis*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D006801:Humans; D017114:Liver Failure, Acute / Q000175:diagnosis*; D008297:Male