Table 3

Routine tests for diagnosing Wilson's disease

TestTypical findingFalse ‘negative’False ‘positive’
Serum caeruloplasminDecreased by 50% of lower normal valueNormal levels in patients with marked hepatic inflammation
Overestimation by immunological assay, pregnancy and oestrogen therapy		Low levels in:

  • malabsorption

  • acaeruloplasminaemia

  • heterozygotes

24-h urinary copper>1.6 μmol/24 h in adults>0.64 μmol/24 h in childrenNormal levels if:

  • incorrect collection

  • children without liver disease

Increased levels if:

  • hepatocellular necrosis

  • cholestasis

  • contamination

Serum ‘free’ copper>1.6 μmol/LNormal if caeruloplasmin overestimated by immunological assay
Hepatic copper>4 μmol/g dry weightDue to regional variation in:

  • patients with active liver disease

  • patients with regenerative nodules

Cholestatic syndromes
Kayser–Fleischer rings by slit-lamp examinationPresentAbsent

  • in up to 50% of patients with hepatic Wilson's disease

  • in most asymptomatic siblings

Primary biliary cirrhosis

  • Reprinted from reference 7 with permission from Elsevier.