New guidance for Diagnosis, Treatment and Management of Wilson Disease

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

Donations

Your support allows the WDA to maintain this website, produce educational materials, support research, and hold meetings for people living with WD, their families, and the healthcare community.

Membership

As a member, you have the opportunity to communicate your concerns, share your experiences, learn about the most recent advances in Wilson disease treatment and research, and contribute to important decisions that need to be made so the WDA can be a strong patient advocacy group

WILSON DISEASE ASSOCIATION

Contact Us