title: Presentation, diagnosis and outcome of predominantly hepatic Wilson's disease in adult Saudi patients: a single centre experience.
abstract: OBJECTIVE
  To evaluate the clinical manifestations, diagnostic features, disease course and response to treatment among Saudi adults with predominantly hepatic Wilson's disease. A retrospective cohort study of 40 adult patients diagnosed with predominantly hepatic Wilson's disease between 1994 and 2008 at King Abdulaziz Medical City, Riyadh was carried out.
  
  
  METHODS
  The diagnosis was based on varying combinations of clinical and laboratory evidence of liver disease, presence of Kayser Fleisher rings, low serum ceruloplasmin levels, elevated 24 hour urinary copper excretion and histopathological findings on liver biopsy.
  
  
  RESULTS
  The most frequent clinical presentation was decompensated chronic liver disease in 19 (47.5%), followed by chronic hepatitis in 15 (37.5%) and fulminant hepatic failure (FHF) in 5 (12.5%) patients. Eight (20%) patients with end-stage liver disease had liver transplantation, while 24 (60%) patients followed up on medical treatment for a variable period of 1-12 years showed clinical and laboratory improvement. One patient was lost early in follow up. Eight (20%) patients died during the study period, 5 with FHF, and 2 with advanced hepatic and neurological disease and one seven years after liver transplantation. Mortality rate was 100% in FHF without liver transplantation.
  
  
  CONCLUSIONS
  A predominantly hepatic Wilson's disease has varied clinical presentations with decompensated chronic liver disease being the most common among adult patients. Majority of the patients show stabilization of the disease on medical treatment. FHF in Wilson's disease has a grave prognosis without liver transplantation, the later remains a definitive treatment option for decompensated cirrhotics and patients with FHF.
authors.affiliation: Department of Hepatobiliary Sciences and Liver Transplantation, Division of Hepatology, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. ibrahimtraif@yahoo.com
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Altraif
authors.forename: Fayaz A
authors.initials: FA
authors.lastname: Handoo
authors.forename: Hamdan
authors.initials: H
authors.lastname: Al Ghamdi
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Aljumah
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al Jumah
authors.forename: Mohammed
authors.initials: M
authors.lastname: Afzal
mesh_terms: D000293:Adolescent; D000328:Adult; D019468:Disease Management; D018450:Disease Progression; D058625:End Stage Liver Disease / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D015994:Incidence; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D012189:Retrospective Studies; D012529:Saudi Arabia / Q000453:epidemiology; D015996:Survival Rate / Q000639:trends; D013997:Time Factors; D055815:Young Adult