Diagnosing Wilson's disease can be challenging because its signs and symptoms are often hard to tell from those of other liver diseases, such as hepatitis. Also, symptoms can evolve over time. 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. Blood tests can monitor your liver function and check the level of a protein that binds copper in the blood (ceruloplasmin) and the level of copper in your blood. Your doctor also might want to measure the amount of copper excreted in your urine during a 24-hour period.
  • Eye exam. Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks your eyes for Kayser-Fleischer rings, which is caused by excess copper in the eyes. Wilson's disease also is 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 (biopsy). Your doctor inserts a thin needle through your skin, into your liver and draws a small sample of tissue. A laboratory tests the tissue for excess copper.
  • Genetic testing. A blood test can identify the genetic mutations that cause Wilson's disease. Knowing the mutations in your family allows doctors to screen siblings and begin treatment before symptoms arise.