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:
Aug. 28, 2014
- Blood and urine tests. Your doctor may recommend blood tests to monitor your liver function and check the copper levels in your blood. Your doctor also may want to measure the amount of copper excreted in your urine during a 24-hour time period.
- 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 can identify the genetic mutations that cause Wilson's disease. Knowing the Wilson's disease mutations in your family allows doctors to screen siblings and begin treatment before debilitating symptoms arise.
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