What tests are performed in the workup 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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Considerations in the workup of Wilson disease are as follows:

  • Serum ceruloplasmin levels are less than 20 mg/dL (reference range, 20-40 mg/dL) in approximately 90% of all patients with Wilson disease

  • The urinary copper excretion rate is greater than 100 mcg/day (reference range, < 40 mcg/day) in most patients with symptomatic Wilson disease, but it may also be elevated in other cholestatic liver diseases

  • In a patient with Kayser-Fleischer rings, a serum ceruloplasmin level < 20 mg/dL and 24-hour urine copper excretion >40 mcg/day establish the diagnosis of Wilson disease

  • Hepatic copper concentration (criterion standard) on a liver biopsy specimen is >250 mcg/g of dry weight even in asymptomatic patients; a normal result (15-55 mcg/g) effectively excludes the diagnosis of untreated Wilson disease, but elevation may be found in other chronic hepatic disorders

  • Radiolabeled copper testing directly assays hepatic copper metabolism

  • Genetic testing is limited to screening of family members for an identified mutation detected in the index patient

  • Brain imaging shows characteristic findings; MRI appears to be more sensitive than CT in detecting early lesions

  • Abdominal imaging findings are neither sensitive nor specific

  • Resting ECG abnormalities include left ventricular or biventricular hypertrophy, early repolarization, ST segment depression, T-wave inversion, and various arrhythmias

  • Electron microscopic detection of copper-containing hepatocytic lysosomes is helpful in the diagnosis of the early stages of Wilson disease, in addition to the quantification of hepatic copper by atomic absorption spectrophotometry

See Workup for more detail.

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