New guidance for Diagnosis, Treatment and Management of Wilson Disease

Updated Guidance
Executive Summary

How is Wilson disease diagnosed?

The diagnosis of Wilson disease is made by relatively simple tests. The tests can diagnose the disease in both symptomatic patients and people who show no signs of the disease. These tests can include:

  • Opthalmalogic slit lamp examination for Kayser-Fleischer rings.
  • Serum ceruloplasmin test.
  • 24-hour urine copper test.
  • Liver biopsy for histology and histochemistry and copper quantification.
  • Genetic testing, haplotype analysis for siblings and mutation analysis.

It is important to diagnose Wilson disease as early as possible, since severe liver damage can occur before there are any signs of the disease. Individuals with Wilson disease may falsely appear to be in excellent health.

Approach to Diagnosis

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Your donation to the Wilson Disease Association does more than keep the lights on—it powers education, awareness and action. With your support, we’re able to maintain vital resources like this website, produce trusted educational materials, fund critical research and host events that bring together patients, caregivers and medical professionals. Most importantly, your generosity helps raise awareness so more people are diagnosed earlier and treated effectively—giving them the best chance at a full, healthy life.

When you give, you’re not just supporting an organization—you’re joining a powerful movement to change the future of Wilson disease. You’ll stay informed about the latest in research and treatment, gain access to exclusive webinars and educational resources, and remain connected to a global community that understands. For more than 40 years, our shared commitment has fueled advances in care, deepened understanding, and amplified the voices of those affected by Wilson disease. Together, we’re building a stronger, more informed future.

WILSON DISEASE ASSOCIATION

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