Pediatric Wilson’s disease

What is pediatric Wilson’s disease?

Wilson’s disease is a genetic condition that causes copper to gather in the liver and other organs. These may include the brain, kidneys and eyes.

Normally, our bodies use some of the copper we consume and get rid of the rest. But kids with Wilson’s disease aren’t able to process extra copper or pass it in their solid waste. First it builds up in the liver, then it spreads to other organs, like the brain and the kidneys. As copper accumulates, it can damage the organs and prevent them from working properly.

In most cases, Wilson’s disease is diagnosed in people between the ages of 5 and 35. Symptoms may emerge gradually or all of a sudden.

How is pediatric Wilson’s disease diagnosed?

We use a combination of tests to diagnose Wilson’s disease. Symptoms often resemble other health problems, so it’s important that children are seen by experts like ours who know how to diagnose Wilson’s disease and differentiate it from other conditions.

Common tests for diagnosing Wilson’s disease include:

• Blood tests - We use these to assess liver function and check for low levels of a copper-carrying protein called ceruloplasmin.
• Urine tests - High levels of copper in the urine can be a sign of Wilson’s disease.
• Eye exam - Children with Wilson’s disease often have a brown ring (called a Kayser-Fleischer ring) on the outer layer of their eye (cornea).
• Liver biopsy - We may take a sample of the liver and study it for high levels of copper.
• Genetic testing - This can identify the faulty gene that causes Wilson’s disease.
• Family testing - If a child is diagnosed with Wilson’s disease, you may want other family members to get these tests as well. Then they can see if they also have the disease or carry the gene that causes it. It’s possible to have the disease but not show symptoms.

What causes pediatric Wilson’s disease?

Pediatric Wilson’s disease is caused by a genetic change. Both parents must have the changed gene and pass it on to their child for the child to have the disease. If both parents carry the mutation, there is a 25% chance their child will have Wilson’s disease and a 75% chance they won’t. If they don’t, it’s because only one parent passed on the mutated gene (50% chance) or because neither parent did (25% chance).

The gene change affects a protein that normally helps the liver get rid of extra copper by putting it into a substance called bile. Bile helps with digestion and removes waste from the body by being part of our bowel movements. In children with Wilson’s disease, copper isn’t added to their bile, so it doesn’t leave the body. It builds up in their liver and may travel to other organs.

How is pediatric Wilson’s disease treated?

There are several different ways to treat Wilson’s disease, including medicine, diet, and in severe cases, a liver transplant.

Medication - In many cases we can use medicine and diet to stop Wilson’s disease from doing damage. For medicine, we will prescribe penicillamine or trientine. These prevent the body from absorbing copper and help flush it out as waste.

If kids stop taking their medicine, copper will build up again. So kids continue taking this medicine for the rest of their lives. The medicine may cause side effects, such as upset stomach, joint pain or changes to skin texture. If your child experiences side effects, we work to relieve their symptoms or adjust treatment to find the right plan for them.

Low-copper diet - Patients with Wilson’s disease need to follow a low-copper diet. We may recommend supplementing with zinc, which reduces copper absorption by the intestines, or vitamin B6, which can help with side effects of certain medication. Our team includes registered dietitians who work with families to develop healthy meal plans for kids with Wilson’s disease.

Liver transplant - In some cases, a child may require a liver transplant. This happens when Wilson’s disease has led to severe liver scarring (cirrhosis) or liver failure. Our team includes surgeons and support staff who specialize in liver transplant and caring for kids afterward.

After a transplant, a child’s new liver processes copper correctly. So, patients will not need to be on a low-copper diet or take any medication for treatment of Wilson’s disease.

What is the long-term outlook for pediatric Wilson’s disease?

Children with Wilson’s disease tend to do very well if we identify the disease early on. They need to take medication daily but still can enjoy a long and active life.

Survival rates after liver transplant are quite high, but the disease can cause other types of damage that are harder to address. Copper buildup can cause brain damage, for example. A child’s chances of regaining brain function depend on how much damage occurs before they begin treatment. This is one reason that diagnosing Wilson’s disease early is so important.