Wilson Disease | Diagnosis & Treatments

How is Wilson disease diagnosed?

Wilson disease is difficult to diagnose because its symptoms resemble those of many other conditions. A health care provider will typically take a medical and family history and may perform a variety of tests to determine whether a child has Wilson disease:

  • medical history, including questions about unexplained weight loss, vomiting, fatigue, and other symptoms of Wilson disease
  • family history to determine if other members of the family have Wilson disease
  • physical exam to detect physical signs such as anemia, swelling in the feet or legs, or abdominal bloating
  • eye exam to look for Kayser-Fleischer rings
  • liver biopsy to determine the amount of copper in the liver
  • urine analysis to look for high levels of copper in the urine
  • blood tests to test for low levels of ceruloplasmin (copper protein) in the blood

The health care provider may also recommend genetic testing to detect the gene mutation for Wilson disease.

How is Wilson disease treated?

Treatment for Wilson disease involves oral medications that help the liver excrete copper and prevent it from accumulating again.

Drugs like penicillamine and trientine work by binding to copper (a process called chelation) and causing it to be excreted through the urine. Children with Wilson disease need to take these medications  several times a day for the rest of their lives.

The clinician will recommend avoiding foods that are high in copper. These include the following:

  • mushrooms
  • nuts
  • chocolate
  • dried fruit
  • liver
  • shellfish

Once the existing copper is removed from the body, some children may be able to switch to zinc therapy. Zinc helps block the body's absorption of copper.

In advanced stages of liver disease brought on by Wilson disease, a liver transplant may be necessary.

Long-term outlook for people with Wilson disease

With proper diagnosis and treatment, the progress of Wilson disease can be stopped and symptoms may improve.

It's important to diagnose and treat Wilson disease as early as possible. Symptoms of the disease are progressive and, left untreated, may cause irreversible damage.