Wilson Disease

What is Wilson disease?

Wilson disease is a rare genetic disorder passed from parents to children (inherited). It prevents your body from getting rid of extra copper in your system.

Your body needs small amounts of copper from food to stay healthy. But too much copper is toxic.

Normally, your liver gets rid of extra copper by sending it out in bile. Bile is the digestive juice your liver makes. It carries toxins and waste out of your body through your gastrointestinal tract.

When you have Wilson disease, your liver stops working normally. Instead of getting rid of copper, your liver starts storing it. Over time, there is too much copper for your liver to hold. The extra copper gets into your bloodstream. It collects in other organs as well as in your eyes and brain. This can damage your organs. Over time it can be life-threatening.

What causes Wilson disease?

Wilson disease is caused by an inherited defect in the ATP7B gene. It is an autosomal recessive disorder. This means that both parents must pass on the same abnormal gene to the child. Many times parents, who have only one abnormal gene, show no signs of the disease but are carriers of the disease.

What are the symptoms of Wilson disease?

When you have Wilson disease, copper buildup starts when you are born. But it can take years or even decades for symptoms to appear. Symptoms can start at any age but in most cases they start between ages 5 and 35.

The symptoms of Wilson disease vary depending on the organs that are affected.

One symptom that only happens with Wilson disease is having brown rings around the iris (colored part) of the eyes (called Kayser-Fleischer rings). They are seen only on the eye exam. Copper buildup causes the rings. The rings don’t cause vision problems.

Wilson disease may attack your brain and spinal cord (your central nervous system) and your liver. It may attack them at the same time. This can cause a group of symptoms that don’t seem to be related.

Liver symptoms

Liver symptoms may be those of long-lasting (chronic) liver disease such as:

• Extreme tiredness (fatigue)
• Muscle cramps
• Weakness
• Loss of appetite
• Nausea
• Vomiting
• Weight loss
• Fluid in your belly or legs
• Yellowish skin or whites of eyes (jaundice)
• Easy bruising
• Swollen liver and spleen

Neurological symptoms

Copper buildup in the central nervous system can cause symptoms such as:

• Changes in behavior
• Stiff muscles
• Tremors, shakes, or movements you can’t control
• Slow or repeated movements
• Weak muscles
• Trouble swallowing
• Slurred speech
• Poor coordination
• Drooling
• Decreased fine motor abilities

Mental health symptoms

When copper builds up in the central nervous system, it can also cause psychological changes such as:

• Feeling stressed and anxious
• Being depressed
• Losing touch with reality (psychosis)
• Thinking about suicide

Other symptoms

Wilson disease can also cause other symptoms such as:

• Weak, fragile bones (osteoporosis)
• Pain and swelling in joints (arthritis)
• Not having enough healthy red blood cells (anemia)
• Lower than normal levels of platelets or white blood cells

The symptoms of Wilson disease may look like other health problems. Always see your healthcare provider for a diagnosis.

Who’s at risk for Wilson disease?

Wilson disease is rare. You are more likely to have the disease if you have a family history of the disorder.  Wilson disease affects both men and women equally.

How is Wilson disease diagnosed?

Wilson disease can be difficult to diagnose. Many of the symptoms may look like symptoms of other diseases.

To diagnose the condition, your provider will look at your overall health and ask about your past health. He or she will ask about your symptoms and give you a physical exam.

You may also have the following tests:

• Eye exam. Your provider uses a special lamp (a slit lamp) to check for brown Kayser-Fleischer rings in your eyes.
• Blood tests. These can check the copper level in your blood and also detect any liver problems.
• 24-hour urine test. This measures the amount of copper in your urine over 24 hours.
• Liver biopsy. A small sample of your liver is removed for testing.
• Genetic testing. A blood test can identify the abnormal genes that cause Wilson disease.

How is Wilson disease treated?

Treatment will depend on your symptoms, age, and general health. It will also depend on how severe the condition is.

There is no cure for Wilson disease. Lifelong treatment is needed to reduce the amount of copper in your body.

Treatment may include:

• Taking medicines to help your body’s organs and tissues get rid of extra copper (copper-chelating medicines)
• Reducing the amount of copper you get through food
• Taking zinc supplements. Zinc prevents your body from absorbing copper from your diet.
• Getting extra vitamin B₆
• Treating any damage to your liver or central nervous system
• Taking medicines to treat symptoms such as muscle tremors or stiffness
• Getting a liver transplant, if you have severe liver damage

Early treatment can help prevent severe problems.

What are the complications of Wilson disease?

Wilson disease can lead to many liver-related problems including:

• Liver damage
• Redness or swelling (inflammation) of the liver, called hepatitis
• Chronic liver damage (cirrhosis) causing scarring and liver failure
• Liver failure

Neurological symptoms can make it difficult for you to function normally. Brain damage is also possible.

Wilson disease can be fatal.

What can I do to prevent Wilson disease?

There is no way to prevent Wilson disease. But genetic counseling may help you find out if your current or future children are at risk for the disorder.

Talk to your health care provider about genetic testing if you have a family or personal history of the condition. When someone has Wilson disease, their brothers or sisters should be tested. More distant relatives who have neurological or liver symptoms should also be tested.

Living with Wilson disease

Your provider may suggest you take medicine to help keep your copper level under control. You may also need to change your diet to help reduce your copper intake. These dietary changes include:

• Not eating shellfish
• Not eating liver
• Limiting or not eating mushrooms
• Limiting or not eating nuts
• Limiting or  not eating dried fruits
• Limiting or not eating chocolate
• Not taking multivitamins that have copper

You should test your drinking water for copper, or find a source of water that has no copper.

It's also important to see your provider for regular follow-up visits and lab tests to make sure your copper levels are under control.

If you want to get pregnant or you are pregnant, tell your provider. You may need to change the amount of medicine you take while you are pregnant.

Talk with your provider about other things you can do to keep your liver healthy. This includes getting vaccines for hepatitis A and B.

When should I call my healthcare provider?

Call your provider if you have psychological symptoms that get worse, such as thoughts of suicide.

Also call your provider if you show signs of possible liver failure, such as:

• Feeling sleepy more often
• Increasing confusion
• Not being responsive
• Weight gain and increased fluid in the abdomen
• Yellowing of your skin or eyes

Key points

• Wilson disease is a rare genetic disorder that prevents your body from getting rid of extra copper in your system.
• Too much copper builds up in your liver. The copper collects in other organs as well as in your eyes and brain.
• Your organs become damaged. Over time it can be life-threatening.
• It can be difficult to diagnose. Many of the symptoms are also symptoms of other diseases.
• There is no cure. Lifelong treatment is needed to reduce the amount of copper in your body.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Before your visit, write down questions you want answered.
• Bring someone with you to help you ask questions and remember what your provider tells you.
• At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you.
• If you have a follow-up appointment, write down the date, time, and purpose for that visit.
• Know how you can contact your provider if you have questions.