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Conditions We Treat: Wilson Disease

In Wilson disease, the liver cannot properly absorb and use copper, resulting in copper overload. This is a rare, chronic, genetic condition that can result in damage to the liver and other organs.

Wilson Disease Treatment: Why Choose Johns Hopkins

  • Wilson disease is a rare disorder that can be challenging to diagnose. Identifying Wilson disease promptly is important to reduce further organ damage.
  • Our expertise helps us interpret your test results and avoid unnecessary procedures.
  • The Johns Hopkins team includes world-renowned experts in Wilson disease who are leading the latest efforts in research and treatment.

Request an Appointment:



Wilson Disease Treatment at Johns Hopkins: What to Expect

Before Your Appointment

Before your first visit at Johns Hopkins is scheduled, our office will review your medical records. When you call to request an appointment, we will ask you to fax all of your records to 410-500-4257.

Examination and Testing

At your appointment, your doctor will ask you questions and perform an examination. He or she may order tests such as:

  • A blood test, which can detect abnormal genes and elevated levels of copper.
  • A urine test to look for excess copper.
  • An eye exam to check for Kayser-Fleischer rings in your eyes, a sign of Wilson disease.
  • Other tests as needed.

Treatment for Wilson Disease

Treatment does not eliminate Wilson disease, but treating Wilson disease as soon as possible can help you avoid organ damage. Your doctor might prescribe medicine to help absorb and eliminate some of the extra copper in your liver and other organs.

A special diet can reduce the amount of copper you take in. Vitamins and mineral supplements and medications to address muscle tremors, stiffness or other symptoms might be part of your therapy.

Genetic counseling can help you understand how Wilson disease might affect your current or future children, or others in your family.

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