What is the role of hepatic copper concentration in the diagnosis of Wilson disease?

Updated: Feb 14, 2019
  • Author: Richard K Gilroy, MBBS, FRACP; Chief Editor: Praveen K Roy, MD, AGAF  more...
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This test is regarded as the criterion standard for diagnosis of Wilson disease. A liver biopsy with sufficient tissue reveals levels of more than 250 mcg/g of dry weight even in asymptomatic patients. Special collection vials are available to help avoid contamination.

A normal hepatic copper concentration (reference range, 15-55 mcg/g) effectively excludes the diagnosis of untreated Wilson disease. An elevated hepatic copper concentration may be found in other chronic hepatic (mostly cholestatic) disorders.

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