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. 2013 Jul 6;3(4):321–336. doi: 10.1016/j.jceh.2013.06.002

Table 3.

Routine tests for diagnosis of Wilson disease.

Test Typical finding False negative False positive
Serum ceruloplasmin Decreased by 50% of lower normal value Normal levels in patients with marked hepatic inflammation.
Overestimation by immunologic assay
Pregnancy, estrogen therapy		 Low levels in:
  • -

    malabsorption

  • -

    aceruloplasminemia

  • -

    heterozygote’s
24 h urinary copper >100 mcg/24 h
>40 mcg/24 h in children		 Normal
  • -

    incorrect collection

  • -

    children without liver disease

 Increased
  • -

    Hepatocellular necrosis

  • -

    Cholestasis

  • -

    Contamination
Serum free copper >200 mcg/L Normal if ceruloplasmin overestimated by immunologic assay
Hepatic copper >250 mcg/g dry weight Due to regional variation
  • -

    in patients with active disease

  • -

    in patients with regenerative nodules

 Cholestatic syndromes
Kayser–Fleischer rings by slit-lamp examination Present Absent
  • -

    in up to 50% of patients with hepatic Wilson disease

  • -

    in most asymptomatic siblings

 Primary biliary cirrhosis

Reproduced with permission from Elsevier Publications J Hepatol. 2012; 56:671–85.