Wilson Disease

What is Wilson disease?

Wilson disease is a rare genetic condition that causes too much copper to collect in the body. Children born with Wilson disease cannot get rid of extra copper from their bodies. The copper buildup can hurt their liver, brain, eyes and other organs. Taking medicine and eating foods low in copper can help stop or lessen the damage. If caught early, treatment can start before the disease causes harm.

Why choose Seattle Children’s for your child’s Wilson disease care?

Dr. Sihoun Hahn with two patients

Dr. Sihoun Hahn has pioneered a novel test to detect Wilson disease as part of newborn screening and to confirm cases that are hard to diagnose.

Read about Kaitlyn and Ryan Wyckoff ‘s journey with Wilson disease.

  • Seattle Children’s Biochemical Genetics Clinic is a Wilson Disease Center of Excellence, named by the Wilson Disease Association (WDA).
  • Sihoun Hahn and his team are world experts in Wilson disease. They have more than 30 years of experience treating children with this condition.
  • Because it is a rare disease, many doctors have little experience diagnosing and treating children with Wilson disease. Seattle Children’s has the expertise and experience to diagnose your child and give them the best care for their unique needs.
  • Children born with Wilson disease need lifelong care to stay healthy. Our Biochemical Genetics team provides a "medical home" for babies, children and young adults with known or suspected Wilson disease and other inherited . Our team includes doctors, , nurses, and .
  • We are known globally for providing high-quality care and access to the specialists that children with Wilson disease might need. These include experts in liver disease (hepatologists), , , , , social workers, and . Seattle Children’s has the only liver transplant program for children in the Pacific Northwest.
  • We do research to learn more about the causes of Wilson disease and better ways to treat it. We offer of new treatments such as . We invite our patients to take part in , studies and .
  • We are the only children’s hospital in the Pacific Northwest named a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). At NORD Centers of Excellence like ours, experienced teams of world-class doctors diagnose and treat a wide range of rare diseases.
  • We serve children, teens and young adults from Washington, Wyoming, Alaska, Montana and Idaho. We also see patients who come to Seattle Children’s from other parts of the world and via telemedicine for second opinion consultations.

What are the symptoms of Wilson disease?

In children born with Wilson disease, extra copper starts building up in the liver at birth. But signs do not show up until later in childhood. By then, the disease might have already caused serious and long-lasting damage to your child’s liver and nervous system.

Symptoms depend on which organs are affected. Your child may have signs of liver disease like:

  • Yellowing of the skin or eyes (jaundice)
  • Easy bruising or bleeding
  • Swelling of the legs, ankles or belly
  • Lack of energy
  • Weight loss

Nervous system symptoms are rare in children before the age of 10 years. Teens and adults may have symptoms such as:

  • Loss of coordination
  • Stiffness
  • Tremors or changes in handwriting
  • Changes in personality, sleep or behavior
  • Anxiety or depression
  • Impaired thinking

How is Wilson disease diagnosed?

Early diagnosis is the key to avoiding long-lasting damage to the liver and brain. See a doctor if your child has symptoms like yellowing of the skin or eyes (jaundice), leg swelling or bloated belly. It is also important to have your child checked if a family member has Wilson disease or carries the change (variant) that causes it.

To diagnose Wilson disease, your doctor will do 1 or more of the following:

  • Ask about your child’s symptoms and medical history.
  • Ask if anyone else in your family has had the same kind of symptoms.
  • Check your child for signs of Wilson disease.
  • Test your child’s blood and pee (urine) to look for of Wilson disease.
  • Use a special microscope (slit lamp) to check your child’s eyes for brown rings that indicate copper buildup.
  • Remove a small part of your child’s liver () to check for copper buildup.
  • Check ATP7B peptide levels in your child’s blood, using a test pioneered by Dr. Sihoun Hahn.
  • Test your child’s blood or spit (saliva) for gene changes that cause Wilson disease. Our will explain the test options and what to expect.
  • Possibly recommend that other family members have .

Dr. Sihoun Hahn is doing a large pilot study to include his Wilson disease test in newborn screening in Washington state. He is also working to include the test as part of newborn screening nationwide.

How is Wilson disease treated?

Treatment for Wilson disease is lifelong. The first step is to get rid of extra copper in the body. Then the goal is to keep copper levels normal, using medicines and a low-copper diet. 

We offer clinical trials on new approaches, such as gene therapy to introduce a new gene into the body to help treat the disease.

The team in our Biochemical Genetics Clinic will give your child complete care. Depending on your child’s needs, they may see Seattle Children’s experts in liver disease (hepatologists), , , , , and .

  • Medicines for Wilson disease

    Treatments depend on your child’s symptoms, severity of disease and treatment stage.

    Most children with Wilson disease need medicines that bind to copper, such as trientine. These medicines are called chelating agents.

    Some patients may need to take zinc, a supplement that helps stop the gut from absorbing copper.

  • Diet low in copper

    To help keep normal copper levels in the body, your child should avoid these foods:

    • Nuts
    • Chocolate
    • Dried fruit
    • Liver and other organ meats
    • Shellfish
    • Mushrooms

    Other steps:

    • Do not use copper pots and bowls for meals
    • Avoid multivitamins and other supplements with copper
    • If you have copper pipes, check copper levels of your drinking water
  • Monitoring liver health

    We will check the health and function of your child’s liver and treat any problems. Some children may need:

    • Blood and urine tests
    • Regular scans of their belly to check liver health
    • to check blood flow through the liver
    • to remove a small piece of liver and examine it under a microscope
    • FibroScan, a special ultrasound that measures signs of damage like liver stiffness and fatty changes

    Experts at Seattle Children’s () have experience treating all liver conditions with the most state-of-the-art medical therapies and surgical techniques. We have the Northwest’s only dedicated pediatric Hepatology Program.

    About 5% of people with Wilson disease have liver damage bad enough to need a liver transplant. Seattle Children’s has the only pediatric liver transplant program in the Pacific Northwest.

  • Regular check-ups for your child’s best health

    The specialists at our Biochemical Genetics Clinic will monitor your child’s health over the long term. We check for new symptoms, assess if treatment is working and look for side effects.

    At regular visits, the team will:

    • Do a physical exam to look for symptoms
    • Order follow-up tests on blood and pee (urine) to check copper levels
    • Assess your child’s liver health with
    • Order other tests as needed
    • Connect you with the right team of doctors as needed (like neurology and hepatology)

    We make a plan for follow-up appointments and a schedule that is right for your child. Visits are frequent at the start of treatment, when health concerns arise or if your child needs changes in their care plan. As time goes on, your child may only need check-ups once or twice a year.

    If your child was diagnosed before Wilson disease caused symptoms and liver damage, the goal is to keep them healthy and prevent damage. If Wilson disease harmed your child’s liver or brain, the goal is to improve your child’s symptoms and help them live a healthy life.

Contact Us

If you would like an appointment, ask your primary care provider or specialist to refer you to Seattle Children’s Biochemical Genetics Clinic. If you have a referral, contact us at 206-987-3012, option 1 to make an appointment.

Providers, see how to refer a patient to Biochemical Genetics.

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