What tests are used to diagnose Wilson disease?
If we suspect your child has Wilson disease, we will often first give them an eye exam to look for a Kayser-Fleischer ring. This symptom appears as dark rings that encircle the iris (the colored part of the eye).
We will then perform a blood test to look for signs of liver damage. We’ll be able to tell if copper is affecting your child's liver function if their liver is not properly cleaning toxins from their blood. A urine test can help us determine if there is excess copper in their body.
We may also perform a liver biopsy to determine if there is excess copper in your child's liver. Ultimately, Wilson disease is diagnosed with genetic testing. If positive, we may also test first-degree relatives (parents and siblings) to determine if they also have Wilson disease.
What to expect from a liver biopsy
At Children's Hospital Colorado, our board-certified pediatric hepatologists and pediatric anesthesiologists perform the liver biopsy while your child is under general anesthesia, so they experience no pain or discomfort. A board-certified pediatric pathologist with extensive experience looking at pediatric liver biopsies reviews the biopsy.
If the procedure seems uncomfortable or scary to your child, our child life specialists are trained in using therapeutic play, recreation and educational techniques to ease fears and guide your child through the procedure and treatment.
Why choose us to diagnose Wilson disease?
The wide range of signs and symptoms associated with Wilson disease make it difficult to diagnose. At Children’s Colorado, we have a multidisciplinary team of specialists with expertise specific to this disease. And because the team is made of up different specialists from across the hospital, we can complete the necessary testing faster to come to a more accurate diagnosis quickly.
How do we diagnose Wilson disease?
Wilson disease is diagnosed with genetic testing.