Wilson Disease

What is Wilson disease?

Wilson disease is a rare inherited disorder that can cause liver damage and other life-threatening conditions. When a child has Wilson disease, their liver is unable to excrete copper found in many foods. Copper builds up in the liver and causes progressive damage. Eventually, the copper is released into the bloodstream and forms deposits in other organs including the brain, kidneys, and eyes.

Wilson disease affects about one in 30,000 people worldwide. Without treatment, Wilson disease may cause severe complications, including liver failure, kidney damage, and nerve damage.

What are the symptoms of Wilson disease?

Symptoms of Wilson disease appear when copper builds up in the liver, brain, or other organs. This typically happens between ages 5 and 35. Symptoms vary from child to child, depending on which organs are affected. Symptoms can include:

  • weakness and unusual fatigue
  • weight loss
  • stomach pain and/or bloating
  • easy bruising or bleeding
  • swelling in the legs, ankles, or feet
  • muscle cramps
  • jaundice
  • brown rings in the outer part of the eye known as Kayser-Fleischer rings

Once the disease begins to affect the nervous system, other symptoms may begin to appear, though this typically happens in adults. The symptoms include:

  • tremors
  • difficulty walking
  • speech and language problems
  • changes in behavior
  • difficulty with motor skills (such as writing, talking, and balancing)

What causes Wilson disease?

Wilson disease is a genetic condition — children inherit it from their parents.

If both parents have the gene mutation for Wilson disease, their children have a 25 percent chance of developing the disease. If only one parent carries the mutation, their children will not develop Wilson disease but may carry the gene mutation that they could pass to their children.

How we care for Wilson disease

The Center for Childhood Liver Disease at Boston Children's Hospital specializes in caring for children and young adults who have Wilson disease and a wide variety of other liver, gallbladder, and bile duct disorders. We have access to the most up-to-date diagnostic equipment and the latest investigational drug therapies currently in clinical trials.