title: Wilson's disease: varied hepatic presentations.
abstract: BACKGROUND
  Wilson's disease is an inherited disorder of copper metabolism. Previous Indian studies have high-lighted the neurological manifestations of this disorder. Eleven patients with Wilson's disease with different hepatic manifestations are reported.
  
  
  METHODS
  Patients referred to the gastroenterology department of a tertiary referral center were investigated for Wilson's disease, based on clinical suspicion, with slit-lamp examination for Kayser-Fleischer rings, serum ceruloplasmin and 24-hour urinary copper estimation. Liver biopsy was done whenever possible.
  
  
  RESULTS
  Patients with Wilson's disease presented as acute viral hepatitis (n = 5), fulminant hepatic failure (n = 2), subacute hepatic failure (n = 2) and cryptogenic cirrhosis (n = 2). Therapy with penicillamine/trientene and zinc sulphate was started in 9 patients; 5 showed good response to therapy, one had to be switched to trientene due to penicillamine toxicity, two died, and one was lost to follow-up.
  
  
  CONCLUSIONS
  Wilson's disease has varied hepatic presentations and should be suspected in all patients with unexplained liver disease. Any young adult presenting with acute hepatitis or fulminant hepatic failure who has evidence of underlying chronic liver disease or associated hemolytic anemia should be investigated for Wilson's disease. Therapy with penicillamine or trientene combined with zinc sulphate shows improvement in a majority of patients.
authors.affiliation: Department of Gastroenterology, Jaslok Hospital and Research Center, Bombay.
authors.forename: H H
authors.initials: HH
authors.lastname: Gill
authors.forename: K
authors.initials: K
authors.lastname: Shankaran
authors.forename: H G
authors.initials: HG
authors.lastname: Desai
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D006801:Humans; D008297:Male