Wilson's Disease

What is Wilson’s disease?

Wilson’s disease is an inherited condition which causes copper to build up in the body. This excess copper tends to collect in the brain and liver but can also be found in the corneas (in the eyes) and the kidneys. If Wilson’s disease is not treated properly, it can cause very serious symptoms.

Wilson’s is rare and affects around 1 in 30,000 people. It was named after the doctor who first described the disease, Dr Samuel Wilson. If you inherit Wilson’s disease your body is unable to remove copper normally, which causes it to collect. The body only needs very small quantities of copper to work effectively and removes any excess, but people with Wilson’s disease are unable to do this and copper starts to collect in areas of the body as a result.

An excess of copper can cause damage to the organs and too much copper in the liver cells (known as hepatocytes) causes liver damage. An excess of copper in the brain tends to damage the lenticular nucleus, for which Wilson’s disease is sometimes known as hepatolenticular degeneration as a result.

What causes Wilson’s disease?

The condition is an inherited condition caused by a fault on a specific gene called ATP7B. This gene is responsible for removing excess copper from the body by controlling the liver cells. As there is a fault on the gene the liver cells are unable to remove excess copper and this means that copper collects in the liver, brain and other areas of the body.

Wilson’s disease inheritance

Wilson’s disease is an autosomal recessive disorder, which means that it is inherited from both parents and you must inherit one faulty ATP7B gene from each parent in order to develop Wilson’s disease. It is also possible to pass on the condition if you are a carrier. Carriers only inherit one gene and there is a 1 in 4 (25%) chance that a child will develop Wilson’s disease if both their parents are carriers. It is estimated that around 1% of people are carriers of Wilson’s disease. If a child has two parents who are carriers, there will be a 50% chance that they will not have the disease but will be a carrier, and a 25% chance that they will not have the disease or be a carrier.

Symptoms of Wilson’s disease

Wilson’s disease is a congenital condition (this means it is present at birth) but symptoms take a long time to develop. This is because it takes a long time for copper to collect in the body, so it can take anywhere between 6 and 20 years for symptoms to become present.

Symptoms affect different parts of the body:

Liver symptoms (these tend to develop first):

• Jaundice (when the skin and whites of the eyes become yellowy in colour).
• Vomiting.
• Pain in the abdomen.

Neurological symptoms:

• Speech problems.
• Slow movement.
• Mood swings.
• Depression.
• Tremors in the arms.
• Lack of concentration.

Symptoms affecting the eyes:

• The development of brown coloured rings in the cornea, known as Kayser-Fleischer rings.

Complications of Wilson’s disease

If Wilson’s disease is left untreated it can become serious. Possible complications of Wilson’s disease include:

• Dementia.
• Liver failure.
• Cirrhosis.
• Muscle weakness.
• Osteoporosis.
• Anaemia.
• Heart problems.
• Kidney damage.
• Pancreatitis.

How is Wilson’s disease diagnosed?

Wilson’s disease is diagnosed using a combination of tests. If you have symptoms linked to Wilson’s disease your GP will refer you to a specialist for tests. Tests that may be carried during the diagnostic process include:

• Blood tests: the level of a protein called caeruloplasmin will be measured as the level is abnormally low in most people with Wilson’s disease.
• Blood tests to check liver and kidney function and the level of copper in the blood.
• A urine test to check copper levels.
• Visual tests and eye examinations to check for Kayser-Fleischer rings.
• Liver biopsy: this involves taking a small sample of tissue and sending it to a laboratory for analysis.

If you are diagnosed with Wilson’s disease your doctor will advise your siblings (if you have any) to be tested for the disease, since there is a 1 in 4 chance that a sibling will also have the condition.

Treatment for Wilson’s disease

The earlier Wilson’s disease is treated the better. If Wilson’s disease is diagnosed and treated early, there is a lower risk of long-term complications. Treatment for Wilson’s disease involves a type of medication, known as a chelating agent, to enable the body to remove excess copper. The most commonly used drug is penicillamine and treatment is usually long-term, with the dose lowered once the initial build-up of copper has been removed. Zinc is sometimes used as a treatment to prevent the gut from absorbing any copper from the diet. Zinc rarely causes side-effects and it is usually effective for people diagnosed early who have no symptoms.

Treatment is required for life for people with Wilson’s disease. The aim of treatment is to clear the build-up of copper and prevent collections from forming in the future.

For people who are diagnosed at an advanced stage when the liver has been badly affected (this involves cirrhosis, which is a scarring of the liver and may cause liver failure), a transplant may be an option. This requires the removal of the damaged liver to be replaced with the functioning one of a donor. This can be a complex procedure but is also one that can be life-saving.

You may be advised to avoid eating foods with a high copper content, including:

• Liver.
• Shellfish.
• Chocolate.
• Nuts.
• Mushrooms.

What is the outlook for people with Wilson’s disease?

The outlook is positive for people diagnosed and treated early and most people are able to live a long and healthy life if they receive suitable treatment. However, if Wilson’s disease is not treated it can be fatal.