title: Wilson's disease in patients presenting with liver disease: a diagnostic challenge.
abstract: OBJECTIVE
  In patients with Wilson's disease presenting with liver involvement, the correct diagnosis is often missed or delayed. The aim of this study was to find an algorithm for diagnosis of this difficult patient group.
  
  
  METHODS
  Clinical and laboratory findings of 55 patients with Wilson's disease were evaluated at diagnosis before treatment. Presenting symptom was chronic liver disease in 17 patients, fulminant hepatic failure in 5 patients, hemolysis in 3 patients, and neurological disease in 20 patients, and 10 patients were detected by family screening (siblings). Evaluation included neurological and ophthalmologic examination, routine laboratory tests, and parameters of copper metabolism including liver copper content in 43 liver biopsy specimens.
  
  
  RESULTS
  In the whole group, serum ceruloplasmin level was <20 mg/dL in 73%, urinary copper excretion was increased in 88%, and liver copper content was elevated in 91% at diagnosis. Kayser-Fleischer rings were detected in 55%. In contrast to patients with neurological disease (90% Kayser-Fleischer rings, 85% low ceruloplasmin), only 65% of patients presenting with liver disease were diagnosed by these typical findings. Ceruloplasmin levels were lower in patients with Kayser-Fleischer rings or with neurological disturbances than in patients without these symptoms.
  
  
  CONCLUSIONS
  The commonly used clinical and laboratory parameters are not sufficient to exclude the diagnosis of Wilson's disease in patients with liver disease of unknown origin.
authors.affiliation: Department of Internal Medicine IV, University of Vienna, Austria.
authors.forename: P
authors.initials: P
authors.lastname: Steindl
authors.forename: P
authors.initials: P
authors.lastname: Ferenci
authors.forename: H P
authors.initials: HP
authors.lastname: Dienes
authors.forename: G
authors.initials: G
authors.lastname: Grimm
authors.forename: I
authors.initials: I
authors.lastname: Pabinger
authors.forename: C
authors.initials: C
authors.lastname: Madl
authors.forename: T
authors.initials: T
authors.lastname: Maier-Dobersberger
authors.forename: A
authors.initials: A
authors.lastname: Herneth
authors.forename: B
authors.initials: B
authors.lastname: Dragosics
authors.forename: S
authors.initials: S
authors.lastname: Meryn
authors.forename: P
authors.initials: P
authors.lastname: Knoflach
authors.forename: G
authors.initials: G
authors.lastname: Granditsch
authors.forename: A
authors.initials: A
authors.lastname: Gangl
mesh_terms: D000293:Adolescent; D000465:Algorithms; D001706:Biopsy; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008099:Liver / Q000737:chemistry / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis; D008297:Male
chemical_list: D003300:Copper; D002570:Ceruloplasmin