Tests and diagnosis

By Mayo Clinic Staff

Diagnosing Wilson's disease can be challenging because its signs and symptoms are often indistinguishable from those of other liver diseases, such as hepatitis. What's more, many symptoms may evolve over time rather than appear all at once. Behavioral changes that come on gradually can be especially hard to link to Wilson's. Doctors rely on a combination of symptoms and test results to make the diagnosis.

Tests and procedures used to diagnose Wilson's disease include:

  • Blood and urine tests. Your doctor may recommend blood tests to monitor your liver function and look for copper in your blood. Your blood may also be tested for the level of a protein called ceruloplasmin. This protein, which carries copper in your bloodstream, is usually low in Wilson's disease. Your doctor may also use urine tests to measure the amount of copper excreted in your urine in a 24-hour period.
  • Brain scans. If you have signs and symptoms that indicate Wilson's disease is affecting your brain, your doctor may recommend tests to create images of your brain. Tests may include computerized tomography (CT) and magnetic resonance imaging (MRI).
  • Eye exam. Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks your eyes for golden-brown discoloring (Kayser-Fleischer rings). The abnormal appearance is caused by deposits of excess copper in the eyes. Wilson's disease has also been associated with a type of cataract, called a sunflower cataract, that can be seen on an eye exam.
  • Removing a sample of liver tissue for testing. In a procedure called a liver biopsy, your doctor inserts a thin needle through your skin and into your liver. Your doctor draws out a small sample of liver tissue and sends it to a laboratory to test for excess copper.
  • Genetic testing. A blood test called DNA mutation analysis can identify the genetic mutations that cause Wilson's disease. This test is available at a limited number of medical centers and is done using a small sample of blood drawn from your arm or collected from a finger prick. It's recommended when other forms of testing support a diagnosis of Wilson's disease or when other tests fail to provide conclusive results. Knowing the Wilson's disease mutations in your family allows doctors to genetically screen siblings and begin treatment before debilitating symptoms arise.
Sep. 23, 2011

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