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Home Information Medical stuff Information on liver diseases Wilson's Disease

Wilson's Disease

What is Wilson's disease?

Wilson's disease is a rare, inherited condition in which the body cannot handle copper correctly. This leads to a toxic build-up of copper in the liver and brain.

It is estimated that around one in 30,000 people has Wilson's disease. It is more common in some areas, for example, Sardinia and some Eastern European countries.

In younger children it is often the liver which is most affected. In teenagers and adults the brain may be more affected. Between half and two-thirds of Wilson's disease patients show symptoms before the age of 15 and most of these will have liver disease.

Why does the body contain copper?

Copper is needed to survive and is found in many foods as well as in drinking water. Not having enough copper can cause a reduction in the number of red blood cells in the blood (anaemia) and poor growth.

Each day we take in approximately 1 mg copper. Foods which contain a lot of copper include liver and shellfish. Other offal, nuts and seeds contain copper but less than liver and shellfish. Large intakes of dark chocolate may increase copper intake but not as much as the other foods listed.

What causes Wilson's disease?

Wilson's disease has a genetic basis which means it is caused by changed in genes which make up our DNA. The gene affected in Wilson's disease is called ATP7B.

Wilson's disease is "autosomal recessive". This means that, in order to develop Wilson's disease, a person must have two Wilson's disease genes, one inherited from each parent.

If the parents of a child with Wilson's disease do not have the disease, they will be carriers for the gene but will not be unwell because of it.

There are over 500 different genetic mutations which can cause Wilson's disease. People from different parts of the world have different mutations.

The gene involved in Wilson's disease is one which instructs liver cells to make a protein which acts as a "copper pump". This copper pump transports copper out of the liver cells into bile. When an individual has two faulty copies of the gene the copper pump isn't formed properly so can't pump the copper out into the bile.

What are the signs and symptoms of Wilson's disease?

Wilson's disease can have a number of different effects within the liver.

In mild cases the symptoms may include tiredness, loss of appetite, abdominal pain, joint pain, vomiting, weight loss, nose bleeds and anaemia. There may be symptoms of chronic (ongoing) liver disease such as jaundice, a large spleen and dilated blood vessels in the stomach and oesophagus (varices). Some children and young people may have acute liver failure.

Patients may have been diagnosed because other members of the family are known to have Wilson's disease.

How is Wilson's disease diagnosed?

Wilson's disease may be considered in any child over three years of age who has acute or chronic liver disease.

If it is suspected that a child or a young person may have Wilson's disease then there are a number of tests which can be used to confirm the diagnosis.

Blood tests

Blood is taken to carry out liver function tests. More information on these blood tests can be found in CLDF's leaflet "An Introduction to Liver Disease". Copper levels will also be tested. Often blood tests will show that children with Wilson's disease are anaemic. DNA will be sent for testing of the ATP7B gene.

Urine tests

In Wilson's disease the copper levels in urine are high. The levels of copper are measured in two 24 hour urine collections before and after a test dose of penicillamine is given. Penicillamine is a medication which enables excess copper to be excreted.

Liver biopsy

The amount of copper in the liver can be measured from a biopsy sample. A biopsy may also show typical chronic liver disease changes and excess copper.

CLDF's leaflet "An Introduction to Liver Disease" has further details on what a liver biopsy is and how it is carried out.


An MRI (magnetic resonance imaging) scan may show a build-up of copper in the areas of the brain which are often affected.

Eye examination

Copper accumulation in the eye may cause a golden-brown ring to form around the edge of the iris, called a Kayser-Fleischer ring. This ring is only visible using a special instrument (a slit-lamp) and is rarely seen before the age of 10 years.

Want to know more about Wilson's disease?

More information can be found in CLDF’s leaflet on Wilson’s disease. You can also order a copy of the leaflet. Articles written by families affected by liver disease can be found in our blog section, including Iain's and Greg's.

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The information on this site is for guidance only. It is not a substitute for professional medical care by a qualified doctor or other health care professional. ALWAYS check with your medical team if you have any concerns about your condition or treatment. CLDF is not responsible or liable, directly or indirectly, for any form of damages resulting from the use (or misuse) of information contained in or implied by the information on this site.