title: Recent clinical features of Wilson's disease with hepatic presentation.
abstract: BACKGROUND
  We carried out this study to evaluate recent clinical features of Wilson's disease (WD) with hepatic presentation, especially in terms of age, degree of liver injury, and association with hepatocellular carcinoma (HCC).
  
  
  METHODS
  Sixteen patients with hepatic manifestations were diagnosed with WD in the period 1976-2003. We divided this period into two periods, "past" and "recent". The diagnosis was based on the presence of Kayser-Fleisher rings, low serum copper levels, low serum ceruloplasmin levels, increased urinary copper concentrations before or after D-penicillamine challenge, and increased hepatic copper concentrations. This retrospective study was done at Ehime University Hospital.
  
  
  RESULTS
  Four patients, including a pair of siblings, had a family history of WD. Four patients had parental consanguinity. There were 6 patients aged over 40 years in the recent period, whereas no patients in the past period were over 40. Four patients had neurological manifestations. Ten patients had liver cirrhosis and 5 had chronic hepatitis. Two had fatty liver without obesity. All patients in the past period had liver cirrhosis. Three patients with liver cirrhosis were found to have HCC during the follow up. All patients were treated with either D-penicillamine or trientine chloride, or both. However, four patients had to discontinue these agents due to the side effects.
  
  
  CONCLUSIONS
  Recently, the number of patients diagnosed with WD has been increasing, not only in terms of those with classical-type WD but also in terms of elderly patients or patients with non-cirrhotic liver injury such as fatty liver and chronic hepatitis. The various clinical features of WD should be recognized and particular attention should focus on HCC as a complication.
authors.affiliation: Third Department of Internal Medicine, Ehime University School of Medicine, Shigenobu, Ehime, 791-0295, Japan.
authors.forename: Teru
authors.initials: T
authors.lastname: Kumagi
authors.forename: Norio
authors.initials: N
authors.lastname: Horiike
authors.forename: Kojiro
authors.initials: K
authors.lastname: Michitaka
authors.forename: Aki
authors.initials: A
authors.lastname: Hasebe
authors.forename: Keiko
authors.initials: K
authors.lastname: Kawai
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Tokumoto
authors.forename: Seiji
authors.initials: S
authors.lastname: Nakanishi
authors.forename: Shinya
authors.initials: S
authors.lastname: Furukawa
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Hiasa
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Matsui
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Kurose
authors.forename: Bunzo
authors.initials: B
authors.lastname: Matsuura
authors.forename: Morikazu
authors.initials: M
authors.lastname: Onji
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D006528:Carcinoma, Hepatocellular / Q000150:complications* / Q000453:epidemiology; D002648:Child; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008107:Liver Diseases / Q000453:epidemiology / Q000209:etiology; D008113:Liver Neoplasms / Q000150:complications* / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies