Wilson Disease | Symptoms & Causes
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.
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.
What is the 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.
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.
