title: Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease.
abstract: OBJECTIVE
  A 5-fold increase of hepatic copper concentration is considered as the best available test for diagnosis of hepatic Wilson's disease (WD). However, the sensitivity and specificity of this test have never been fully investigated.
  
  
  METHODS
  Copper content was measured by flame atomic absorption spectroscopy in 114 liver biopsies obtained at diagnosis of WD, in 219 patients with noncholestatic liver diseases (including 144 with chronic hepatitis C and 44 with nonalcoholic fatty liver disease), and in 26 without evidence of liver disease.
  
  
  RESULTS
  Liver copper content was >250 microg/g in 95 WD patients (83.3%), between 50 and 250 microg/g in 15, and below 50 microg/g in 4. It did not correlate with age (r(2) = .003), the grade of fibrosis, or the presence of stainable copper. Liver copper content was >250 or between 50 and 250 microg/g in 3 (1.4%) and 20 (9.1%) of 219 patients with noncholestatic liver diseases, respectively. By lowering the cutoff from 250 to 75 microg/g, the sensitivity of liver copper content to diagnose WD increased from 83.3% (95% confidence interval, 75.2%-89.6%) to 96.5% (91.3%-99.1%), but the specificity decreased from 98.6% (96.0%-99.7%) to 95.4% (91.8%-97.8%).
  
  
  CONCLUSIONS
  There is no gold standard for the diagnosis of WD. Liver copper content is a useful parameter, but a value below 250 microg/g does not exclude WD. Diagnosis requires the combination of a variety of clinical and biochemical tests.
authors.affiliation: Department of Internal Medicine IV, Gastroenterology and Hepatology, Medical University of Vienna, Austria. peter.ferenci@meduniwien.ac.at
authors.forename: Peter
authors.initials: P
authors.lastname: Ferenci
authors.forename: Petra
authors.initials: P
authors.lastname: Steindl-Munda
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Vogel
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Jessner
authors.forename: Michael
authors.initials: M
authors.lastname: Gschwantler
authors.forename: Rudolf
authors.initials: R
authors.lastname: Stauber
authors.forename: Christian
authors.initials: C
authors.lastname: Datz
authors.forename: Franz
authors.initials: F
authors.lastname: Hackl
authors.forename: Fritz
authors.initials: F
authors.lastname: Wrba
authors.forename: Peter
authors.initials: P
authors.lastname: Bauer
authors.forename: Oskar
authors.initials: O
authors.lastname: Lorenz
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D016022:Case-Control Studies; D003300:Copper / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012372:ROC Curve; D012680:Sensitivity and Specificity; D013054:Spectrophotometry, Atomic
chemical_list: D003300:Copper; D000251:Adenosine Triphosphatases