Wilson Disease | Diagnosis & Treatment

How is Wilson disease diagnosed?

Your child’s doctor can perform a variety of tests to measure the amounts of copper in your child’s body.

These can include:

  • 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
  • eye exam to look for Kayser-Fleischer rings

Your child’s doctor may also recommend genetic testing to determine whether other family members may be affected or may be carriers for the gene that causes Wilson disease.

What are the treatment options for for Wilson disease?

Treatment involves medications that promote excretion of copper from your child's body and prevent it from accumulating again.

Getting rid of the copper

Drugs like penicillamine and trientine work by binding to copper (a process called chelation) and causing it to be excreted through the urine.

Your child will need to take these medications for the rest of his life.

Preventing it from accumulating again

Once the existing copper is removed from the body, taking zinc may help to prevent it from reaccumulating. Zinc helps to block the body's absorption of copper.

Dietary changes may also be recommended in conjunction with medication therapy, including taking vitamin B6 supplements (only if taking penicillamine).

You child's doctor may also advise avoiding foods high in copper such as the following:

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

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

What is the long-term outlook for patients with Wilson disease?

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

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