Children's Hospital Colorado

Wilson Disease

What is Wilson disease?

Wilson disease is a genetic syndrome that results in an inability to properly metabolize, process and excrete copper. As a result, copper builds up in various tissues including the liver, the eyes and the brain. The excess copper can result in life-threatening organ damage.

What causes Wilson disease?

Wilson disease is genetic, meaning that children inherit it from their parents. Specifically, Wilson disease is an autosomal recessive disorder resulting from a mutation in the ATP7B gene. Genes make up our deoxyribonucleic acid (DNA), which acts as a blueprint for the body, telling it how to form and function. Wilson disease occurs in about one out of every 30,000 live births.

What are the signs and symptoms of Wilson disease?

Children can begin showing signs as early as 5 years old but oftentimes, they do not show signs until they reach adolescence or even adulthood. The symptoms are related to copper deposits that have built up in various places in the body.

Sign and symptoms due to copper deposits in the liver include:

  • Jaundice (yellow skin)
  • Icterus (yellow eyes)
  • Easy bleeding and bruising
  • Ascites (fluid in the belly)
  • Abdominal pain
  • Nausea and vomiting
  • Weight loss

Sign and symptoms due to copper deposits in the brain include:

  • Tremors
  • Changes in gait (the way the child walks)
  • Changes in handwriting
  • Changes in behavior or school performance
  • Changes in mental state

Some children can also have kidney, heart, blood or bone abnormalities that lead to the diagnosis of Wilson disease.

What tests are used to diagnose Wilson disease?

If we suspect your child has Wilson disease, we will often first give them an eye exam to look for a Kayser-Fleischer ring. This symptom appears as dark rings that encircle the iris (the colored part of the eye).

We will then perform a blood test to look for signs of liver damage. We’ll be able to tell if copper is affecting your child's liver function if their liver is not properly cleaning toxins from their blood. A urine test can help us determine if there is excess copper in their body.

We may also perform a liver biopsy to determine if there is excess copper in your child's liver. Ultimately, Wilson disease is diagnosed with genetic testing. If positive, we may also test first-degree relatives (parents and siblings) to determine if they also have Wilson disease.

What to expect from a liver biopsy

At Children's Hospital Colorado, our board-certified pediatric hepatologists and pediatric anesthesiologists perform the liver biopsy while your child is under general anesthesia, so they experience no pain or discomfort. A board-certified pediatric pathologist with extensive experience looking at pediatric liver biopsies reviews the biopsy.

If the procedure seems uncomfortable or scary to your child, our child life specialists are trained in using therapeutic play, recreation and educational techniques to ease fears and guide your child through the procedure and treatment.

Why choose us to diagnose Wilson disease?

The wide range of signs and symptoms associated with Wilson disease make it difficult to diagnose. At Children’s Colorado, we have a multidisciplinary team of specialists with expertise specific to this disease. And because the team is made of up different specialists from across the hospital, we can complete the necessary testing faster to come to a more accurate diagnosis quickly.

How do we diagnose Wilson disease?

Wilson disease is diagnosed with genetic testing.

How is Wilson disease treated?

Children with Wilson disease require treatment with specific medications that help the body to remove excess copper. They are also required to eat foods that contain little to no copper. These measures combined with close monitoring are often effective treatments for Wilson disease. However, we recommend liver transplantation for children who are diagnosed with acute liver failure as a result of Wilson disease. Acute liver disease is a condition in which the liver stops working normally within a short period of time.

Why choose us for treatment of Wilson disease?

The Pediatric Liver Program at Children's Colorado has extensive experience caring for children with Wilson disease. Our team has the expertise to address all liver, neurologic, psychiatric and kidney needs that children with Wilson disease might have.

Our doctors provide not only diagnostic testing and immediate care, but also genetic counseling and long-term care. While most children with Wilson disease do not require a liver transplant, we have an excellent program if it does become necessary. In addition to our deceased donor transplant program, we also have a robust live donor liver transplant program.