Wilson Disease

What is Wilson disease?

Wilson (or Wilson’s) disease is a genetic condition where the body is unable to metabolize and excrete the metal copper. A certain amount of copper is necessary for good health, but unless a person with Wilson disease is diagnosed early, copper builds up in the brain, the liver, and other organs beginning at birth.  There are about 30,000 people worldwide who are affected by Wilson disease. In the case of excess copper in the brain, psychiatric problems can occur, and when the liver is involved, patients can develop hepatitis. In severe cases of Wilson disease, organ damage can occur, including liver damage and neurological problems. Wilson disease is fatal unless treated.

What are the symptoms of Wilson disease?

Symptoms of Wilson disease typically appear between the ages of 6 to 45, but they are seen most often during the teenage years. Wilson disease has several distinct symptoms that often appear in combination. For example, fluid buildup in extremities, jaundice, abdominal swelling, trouble walking, difficulty swallowing, easy bruising, and low white blood cell counts are common combinations that are found in the initial developing of Wilson disease. The primary features of the disease include a combination of liver disease, neurological problems, and/or a brown ring that develops around the iris (known as a Kayser-Fleisher ring). Frequently, patients are misdiagnosed with infectious hepatitis, when in fact, their hepatitis is directly linked to Wilson disease. For some people, psychiatric symptoms may be so severe that they become suicidal, homicidal, or depressed.

What treatment options are available for Wilson disease?

Wilson disease is a treatable condition. The primary treatment for Wilson disease is an attempt to quickly remove copper from the body, which is often done with medications. Chelation therapy drugs act by binding copper so that it can be more easily excreted during urination. Unfortunately, many of these prescription medications can cause severe allergic reactions and/or worsen neurological symptoms.

Once normal levels of copper in the urine and liver have been established, follow-up care usually involves eating low amounts of foods that are rich in copper and taking a zinc supplement to help regulate the absorption of copper. Zinc supplements act by blocking the absorption of copper in the intestinal tract while avoiding negative side effects. This both depletes accumulated copper and prevents its re-accumulation. Zinc’s effectiveness has been shown by more than 30 years of experience in cases of Wilson disease in Europe.

In severe cases, treatment may be necessary to repair damage to organs. For example, if Wilson disease goes untreated, liver failure may occur, and if the liver failure progresses, a liver transplant may be a necessary treatment.

Where can I find more information on Wilson disease?

• Wilson Disease Association
• Mayo Clinic