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Wilson disease

Alternative Names
hepatolenticular degeneration

Wilson disease is an inherited inborn error of metabolism in which the body cannot process copper.

What is going on in the body?
Wilson disease occurs in about 1 in 30,000 people worldwide. It is caused by a defect in an enzyme, or special protein. This enzyme normally helps the body get rid of extra copper. The amount of copper in a normal diet is more than the body needs. In people with Wilson disease, the extra copper cannot be excreted and may damage the liver, brain, and other organs.

What are the signs and symptoms of the disease?
Wilson disease may cause:
  • weakness and a general discomfort
  • loss of appetite
  • jaundice, or yellow eyes and skin
  • lack of co-ordination, known as ataxia
  • tremors, or involuntary rhythmic movements
  • slurred speech or inability to form words
  • psychiatric problems, such as anxiety, depression, personality changes, and psychosis
  • anaemia, or low red blood cell counts
  • kidney problems, which are usually minor
What are the causes and risks of the disease?
Wilson disease is an inherited disorder. The children of parents who carry the gene for the disorder are at risk. Genetic counselling may be helpful.

What can be done to prevent the disease?
Nothing can be done to prevent Wilson disease in someone who has already been born. Genetic testing can determine whether someone has the gene for Wilson disease. Genetic counselling is useful for people with a family history of the disease.

How is the disease diagnosed?
The abnormal history and physical examination makes the doctor suspect Wilson disease. Usually there are high levels of copper in the urine. Often the level of a special protein in the blood is lower than normal. These findings are very suggestive of Wilson disease. Unusual pigment rings seen in the eye, or a large amount of copper in a liver biopsy can both confirm the diagnosis. A liver biopsy involves taking a small piece of liver with a special needle put through the skin. The piece can then be examined under a microscope. Sometimes other tests may be needed.

What are the long-term effects of the disease?
If untreated, Wilson disease causes death. A delay in treatment can cause permanent brain damage, hepatitis, or cirrhosis. If treatment is started early and continued for life, there may be no long-term effects.

What are the risks to others?
Wilson disease is not contagious. It is an autosomal recessive disorder. That means the disease occurs in people who get the defective gene from both parents. Parents who have had a child with Wilson disease are at risk for having other affected children.

What are the treatments for the disease?
Treatment is started right after the diagnosis is made, even if there are no symptoms. It continues for the rest of an affected person's life. If treatment is stopped, the symptoms return. Treatment includes avoiding foods rich in copper. Examples of such foods are dried beans, peas, whole wheat, chocolate, and organ meats.

Medications are also needed. Penicillamine is usually used to treat Wilson disease. It binds copper and allows it to be excreted in the urine. Pyridoxine, a component of vitamin B6, is also given. Other medications, such as trientine dihydrochloride and zinc, may be used in some cases.

In rare cases, Wilson disease may cause rapid, severe liver damage. The only option in such cases is a liver transplant.

What are the side effects of the treatments?
All medications have side effects, such as allergic reactions or stomach upset. For example, penicillamine may cause a rash, low blood counts, or joint pains.

What happens after treatment for the disease?
Treatment is needed for life.

How is the disease monitored?
Copper levels in the body are measured to check the effectiveness of treatment. Routine blood and urine tests are also done.

Author: Ronald J. Jorgenson, DDS, PhD, FACMG
Reviewer: HealthAnswers Australia Medical Review Panel
Editor: Dr David Taylor, Chief Medical Officer HealthAnswers Australia
Last Updated: 1/10/2001
Potential conflict of interest information for reviewers available on request

This website and article is not a substitute for independent professional advice. Nothing contained in this website is intended to be used as medical advice and it is not intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professional's advice.  All Health and any associated parties do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information.


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