Wilson’s Disease

Key points

  • Wilson’s disease is a rare disorder that you inherit from your parents
  • It prevents the body from getting rid of copper
  • The build-up of copper damages some organs including the liver, brain, kidneys and eyes
  • Wilson’s disease is fatal without medical treatment
  • With treatment, someone with Wilson’s disease can lead a normal, healthy life
  • Sometimes Wilson’s disease is only found when someone gets acute liver failure. At this stage they may need a liver transplant

What is Wilson’s disease?

Wilson’s disease is a condition you are born with that prevents the body from getting rid of copper. It’s quite rare and affects about 1 in 40,000 Australians. That means there are about 500 people with Wilson’s disease in Australia.

Everyone needs a small amount of copper for health. One of the liver’s many jobs is to keep the copper balance in the body. It stores copper and releases any extra copper into bile.

If you have Wilson’s disease, your liver doesn’t release copper into bile as it should. Too much copper in the liver can cause liver damage.

When it’s full of copper, the liver starts to release copper straight into the blood. It’s carried around the body and can then damage the brain, kidneys and eyes.

If it’s not treated, Wilson’s disease can cause scarring (cirrhosis) and liver failure. This can happen gradually over years, or the liver can fail suddenly (acute liver failure).

Untreated Wilson’s disease can also cause severe brain damage, blood problems and kidney problems. It can lead to long-term stiffness, problems with movement, and mental health problems like depression, bipolar disorder or psychosis.

In some people, untreated Wilson’s disease is fatal.


What are the symptoms of Wilson’s disease?

Babies are born with Wilson’s disease, but symptoms usually show between the ages of 6 and 20. Sometimes people don’t get symptoms until their 30s or older.

The most common sign is a brownish-yellow ring in the eye called the Kayser-Fleischer ring. This is caused by the build-up of copper. It is can only be confirmed with a specialist eye exam.

Other symptoms of Wilson’s disease include:

  • feeling generally tired and unwell
  • not feeling hungry
  • belly pain
  • yellow skin and eyes (jaundice)
  • fluid build-up in the legs or belly
  • itching
  • anaemia (low iron in the blood)
  • headaches
  • not being able to sleep

Copper in the brain can cause symptoms including:

  • speech and language problems
  • quivering arms and hands (tremors) or seizures
  • drooling or difficulty swallowing
  • symptoms that look like substance abuse, such as slurring or hallucinations
  • depression, manic behaviour or feeling suicidal

Problems with the bones are also common in Wilson’s disease. These include:

  • brittle bones
  • bony growths in the large joints

Many people don’t have any signs or symptoms of Wilson’s disease until a lot of damage is already done to the liver. Sometimes people are diagnosed when they develop acute liver failure. The symptoms of liver failure include:

  • yellow skin and eyes (jaundice)
  • pain in the upper right belly
  • a swollen belly (ascites)
  • nausea
  • vomiting blood (from blood vessels in the food pipe)
  • bruising easily
  • feeling unwell
  • feeling confused
  • being sleepy
Read more about the symptoms of liver disease

How is Wilson’s disease diagnosed?

Talk to your doctor if you have symptoms of Wilson’s disease, or if you have a close relative (parent or sibling) who is diagnosed with the disease. The earlier it’s diagnosed, the better it can be treated.

But because Wilson’s disease is rare, it can often take a long time to get a correct diagnosis. Wilson’s disease can be confused with other health problems including viral hepatitis, fatty liver disease, alcohol-related liver disease, Parkinson’s disease, substance use, or a mental health problem.

The main way to diagnose Wilson’s disease is with a blood test. This looks for the level of a protein call caeruloplasmin that carries copper around the body. The caeruloplasmin level is low in someone with Wilson’s disease. People with Wilson’s disease often also have low iron in the blood (anaemia), low platelets and low white blood cells.

A test on urine collected over 24 hours might show high levels of copper.

An eye test by an ophthalmologist can look for the Kayser-Fleischer rings in the eyes or a certain type of cataract that’s more common in people with Wilson’s disease.

If your doctor suspects Wilson’s disease, they may order a liver biopsy to measure the amount of copper in the liver.

They might also organise genetic testing to see if anyone else in the family has the condition.

Read more about liver tests

Why did I get Wilson’s disease?

Wilson’s disease is a genetic disease. It’s caused by problems with the ATP7B gene. To get the disease, you must receive 2 copies of the abnormal gene, one from each parent.

If you have Wilson’s disease, you will only pass it to your children if your partner also has the abnormal gene. If both of you have the abnormal gene:

  • the risk of your child having Wilson’s disease is 25% with each pregnancy
  • the risk to your child of being a carrier is 50% with each pregnancy
  • the change of receiving normal genes from both parents is 25% with each pregnancy

How is Wilson’s disease treated?

There are good treatments available that mean someone with Wilson’s disease can lead a normal, healthy life.

If you have Wilson’s disease, you will need to take certain medications your whole life. These are to remove copper from the body, stop your intestines from absorbing copper, and help your body to get rid of the copper.

Often several different specialists will be involved in your care, depending on what problems you have from Wilson’s disease. These might include an ophthalmologist (for the eyes), gastroenterologist or hepatologist (for the liver), haematologist (for the blood), neurologist (for the brain) or psychiatrist (for mental health).

Some of the other problems caused by Wilson’s disease can be treated, such as medicines to prevent stiff muscles and joints and to help with any mental health problems.

If the liver damage is severe, someone with Wilson’s disease may need a liver transplant. This will cure the disease.

Read more about liver treatments

Living with Wilson’s disease

People with Wilson’s disease should eat a low-copper diet. This means avoiding:

  • mushrooms
  • nuts
  • chocolate
  • dried fruit
  • liver

Liver damage can be prevented and sometimes reversed by taking chelating medication that binds copper and removes it from the body, eating a healthy diet, plenty of physical activity, having certain vaccinations, and avoiding alcohol.

If you are prescribed a drug called D-Penicillamine, you will also need to take vitamin B6 supplements.


Additional information and support


What next?

Read more about living well

 

References

American Liver Foundation. Wilson’s Disease

Canadian Liver Foundation. Wilson’s disease

Genepath Laboratories. Wilson’s disease: When copper causes seizures and tremors

Mayo Clinic. Acute liver failure

Mayo Clinic. Wilson’s disease

National Library of Medicine. Wilson’s disease

NORD, Rare Disease Database. Wilson’s disease

Reviewed November 2022

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