It causes a build up of copper in the body. A small amount of copper is an essential element of our body and can be found in many foods. Normally, we eat far more copper through diet than we require. But our body is able to excrete this extra copper safely. But an excess of copper eventually affects the normal functioning of the liver and brain. If left untreated, Wilson’s Disease can therefore cause failure of these organs and eventually leads to death. Other organs such as the kidneys and eyes can also be affected.

There may be 2 defects in copper regulation which may exist together to cause excess levels of copper to accumulate. Copper is normally stored in the liver. There may be a lack of a protein responsible for carrying copper from liver cells into bile causing copper levels to rise in the liver. Also, there may be a reduction in the level of a protein found in blood called caeruloplasmin. This protein carries copper in blood and therefore helps maintain a steady level.

Copper levels normally start building up in the liver from birth. However, symptoms of Wilson’s Disease usually are not noticeable until later on in childhood or through adolescent years of life. In some, symptoms may appear even later into adult life.

Often, the liver is the only organ which is seriously affected. This can lead to children being affected by liver disease such as acute or chronic hepatitis, cirrhosis or liver failure. The symptoms of liver disease and cirrhosis are detailed in other pages of this liver guide. However, symptoms of Wilson’s Disease can be very varied and affect several parts of the body.

SYMPTOMS AND SIGNS OF WILSON’S DISEASE

This can affect several organs as listed below;

• liver disease: causing jaundice, abdominal swelling & pain, bleeding from any site, vomiting blood and many other symptoms of liver disease. Please read the page entitled “Liver Cirrhosis” for further details.
• kidney problems leading to other problems such as anaemia.
• eye changes: leading to the appearance of Kayser-Fleischer Rings around the cornea of the eyes. These are rusty brown rings around the coloured part of the eyes and are the most characteristic symptom of Wilson’s Disease. However, these rings may not be visible in everyone with this condition.
• brain: this can lead to many neurological problems especially in teenagers and young adults. These include deteriorating co-ordination and increased clumsiness (ataxia), tremors of the head, arms or legs, problems with speech (dysarthria), difficulty with swallowing (dysphagia) & drooling, odd and involuntary twitches and movements and deterioration in academic performance and school work.
• psychiatric problems: neurotic thinking, depression, abrupt personality changes, changes in behaviour including inappropriate behaviour, aggressive outbursts, suicidal thoughts and homicidal feelings.
• gynaecological: women may develop menstrual irregularities such as erratic or absent periods, multiple miscarriages and infertility.
• heart: enlargement of heart muscle (cardiomyopathy) and irregular heart beat (dysrhythmias).
• bone and joints: causing thinning of the bones (osteoporosis) and arthritis.

HOW IS WILSON’S DISEASE DIAGNOSED?

Wilson’s Disease is a recessively inherited genetic disorder. This means that 2 copies of the faulty gene must be passed to develop the condition. If only one faulty gene is inherited, the individual is a carrier (he/she may have a mild abnormality of copper metabolism) but will not develop Wilson’s Disease. The faulty gene has been identified as ATP7B on chromosome 13.

Therefore, Wilson’s Disease can sometimes be tracked in families. If such a family is identified, it is important for all members of the family to be investigated. This should occur preferably in childhood so that damage to vital organs is limited. But sometimes, a spontaneous mutation of this gene occurs causing the same condition in an individual. In these cases, the disease is not inherited.

Many people suffering from Wilson’s Disease will have little or no symptoms. Most of the symptoms listed above are not specific to Wilson’s Disease and the diagnosis can therefore be easily missed or delayed for many years. If Wilson’s Disease is suspected, a simple blood test to measure copper and caeruloplasmin levels will determine who needs to be investigated further. Further tests such as a liver biopsy then need to be done. Genetic testing can also be considered.

HOW IS WILSON’S DISEASE TREATED?

Unfortunately at present, Wilson’s Disease can neither be prevented nor cured. Sufferers will therefore require life long monitoring and treatment to keep copper levels controlled, thus preventing organ damage. If the condition is spotted early, a child can expect a normal life expectancy. Treatment involves the following factors;

• a low copper diet: avoid foods with high concentrations of copper. These include liver, seafood such as clams, crab, shrimps, oysters, mussels & lobster, syrup, chocolate, mushrooms, certain beans, nuts such as walnuts & peanuts and some canned foods.
• taking vitamin supplements e.g. Vitamin B6.
• drugs to remove excess copper: penicillamine increases the clearance of copper through the kidneys by excretion through urine but can cause side effects. Another drug called trientine has the same effect.
• drugs to reduce copper absorption into the body: zinc salts such as zinc acetate are important in this role and have minimal side effects.
• other drugs such as tetrathiomolybdate are being investigated and are still in the experimental stage at present.
• treatment of other symptoms e.g. treatment of muscle spasms or psychiatric illness.
• liver transplantation: for acute liver failure caused by fulminant hepatitis or longer standing liver disease from cirrhosis.

The outlook in those diagnosed early, before significant damage to liver, brain or kidneys has occurred, is good.