Wilson’s Disease

Diagnosing Wilson’s disease can be hard because its symptoms often are like other liver diseases, such as hepatitis. Also, symptoms can occur over time. Changes in behavior that come on gradually can be especially hard to link to Wilson’s disease.

Doctors rely on 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 called ceruloplasmin that binds copper in the blood. They can check the level of copper in your blood too. Your doctor also might want to measure the amount of copper removed in your urine during a 24-hour period.
• Eye exam. Using a microscope with a high-intensity light, an eye doctor checks your eyes for Kayser-Fleischer rings. This is called a slit-lamp exam. These rings are caused by extra copper in the eyes. Wilson’s disease also is related to a type of cataract, called a sunflower cataract. This cataract can be seen during an eye exam.
• Removing a sample of liver tissue for testing, also known as a biopsy. In a biopsy, your doctor inserts a thin needle through your skin and into your liver. Then your doctor draws a small sample of tissue. A laboratory tests the tissue for extra copper.
• Genetic testing. A blood test can pinpoint the genetic changes that cause Wilson’s disease. If you have the changed gene that causes Wilson’s disease, doctors also can screen any siblings. If any have the changed gene, that sibling can start treatment before symptoms begin.