Wilson’s disease

Wilson’s disease is a genetic disorder in which you have a higher than normal amount of copper in your body. The copper than accumulates in organs including your liver, brain and eyes.

Facts about Wilson’s disease

Why does your body need copper?
How is it inherited?

Copper is a nutrient required to help your body grow. It is not made by your body and must be taken in (absorbed) from your diet. With normal absorption and removal (excretion in faeces and urine), a healthy adult might have around 100 milligrammes of copper in their body. Fortunately, your body only requires copper in very small amounts. Known as a trace mineral, copper is essential for simple metabolic processes, for the development of the brain and central nervous system, for the formation of connective tissue that binds the parts of your body together and for building your bones. Copper also helps to convert iron, another trace mineral, into a form that is more easily absorbed, as well as helping to transport it around your body.

Wilson’s disease is caused by a gene. This is a segment of DNA containing the instructions for making up your body. Genes are packaged in a sequence on strands of DNA called chromosomes which are found in the nucleus of your body cells. All of us carry up to 30,000 individual genes. All your body cells should contain a gene inherited from your mother and one from your father. We generally carry the same genes as each other, but around 1% of genes will differ between people. These small differences are what contribute to each person’s unique physical traits or characteristics.

Wilson's disease: symptoms & diagnosis

What are the symptoms of Wilson’s disease?

Copper accumulation begins at birth but it may take several decades or more before the liver is overwhelmed and the symptoms of liver disease begin to appear. Symptoms usually appear between the ages of 6 and 40, most commonly in late adolescence or teens.

Symptoms can range from jaundice (a yellowing of the skin and whites of the eyes) to acute liver failure and may include:

abdominal pain (in the ‘tummy’ or ‘belly’ area between the chest and pelvis)
swelling caused by fluid in the abdomen (ascites)
vomiting blood (from bleeding varices).

The toxic effects of copper accumulation on the nervous system can lead to a range of disabling physical symptoms, most obviously:

clumsiness and loss of physical coordination
loss of muscle control
contractions
distorted posture, twisting and repetitive gestures
slowness of movement (bradykinesia)
tremors in the arms, legs and head.

The disease may cause problems with language and speech including:

a failing voice, slurring, drooling
difficulty in swallowing
loss of memory and mental confusion.

Around a third of people with Wilson’s disease may experience psychiatric symptoms such as:

personality change
uncharacteristic, possibly bizarre behaviour
worry or anxiety (neurosis)
depression and mood swings
suicidal or homicidal thoughts
delusions or hallucinations (psychosis).

How is Wilson’s disease diagnosed?

Diagnosis of Wilson’s disease is based on abnormal liver tests, signs of psychiatric illness and evidence of Kayser-Fleischer rings (a rusty or coppery brown ring around the cornea of your eye).

Kayser-Fleischer ring

A characteristic clinical sign of Wilson’s disease is a rusty or coppery brown ring around the cornea of your eye, known as the Kayser-Fleischer ring. These rings are not always visible to the naked eye and are only present in around 50% of people with the disease.

In terms of psychiatric or neurological signs of Wilson’s disease, unexplained symptoms such as tremors and clumsiness together with a dramatic personality change will raise suspicion of the disorder.

If Wilson’s disease is suspected, an ophthalmologist (a doctor who specialises in the diagnosis and treatment of eye disorders) will carry out a slit-lamp eye examination to confirm the presence of Kayser- Fleischer rings. The slit-lamp is a type of microscope with a high-intensity light beam attached to provide a highly magnified view of your cornea.

Liver function tests (LFTs)

Liver function tests are used to indicate whether your liver is inflamed (hepatitis), damaged or not working properly. They measure levels of certain enzyme and protein substances in your blood that may alter when liver damage is present.

Doctors will measure levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). These are liver enzymes which indicate the degree as well as the possible causes of inflammation. They leak into the blood stream when the liver cells are damaged. Levels are usually high in hepatitis; doctors will be looking for signs of acute or chronic hepatitis, or cirrhosis.

Further blood tests

A simple blood test will be carried out to measure copper in your blood. There may also be a urine test, measuring copper excretion passed into urine over 24 hours. An increase of copper is usually found in urine, but not always. A caeruloplasmin concentration test is performed to measure levels of another copper-carrying protein, caeruloplasmin. Levels of this protein in the blood are likely to be lower than normal.

Liver biopsy

A liver biopsy may be used to measure the amount of copper (hepatic copper concentration) in your liver. All people with Wilson’s disease will have increased amounts.

Imaging tests

Imaging equipment such as magnetic resonant imagery (MRI) or computerised tomography (CT) may be used to examine a specific area of the brain known as the basal ganglia, which is responsible for starting and controlling your body’s movements. The same equipment may also be used to scan your abdomen.

Treatment for Wilson's disease

Treatment for Wilson’s disease is aimed at removing the excess copper from your body and preventing it from building up again. This is primarily therapy with de-coppering (‘chelating’) agents.

With early detection and successful treatment it is possible for you to enjoy a healthy life. This type of treatment is known as maintenance therapy and is lifelong.

In the UK, copper-chelation therapy is most commonly used and is begun as soon as diagnosis is made. In chelation therapy the drugs D-penicillamine (cuprimine or depen) or trientine dihydrochloride (syprine) are given to remove copper from your body.

Penicillamine

Penicillamine is a drug related to penicillin (but without the antibiotic properties) and is the first choice medication. It is generally successful in preventing or repairing the effects of copper overload unless your liver disease has become very severe. However, around 30% of people are resistant to penicillamine and therefore trientine may be used instead.

Taken in tablet or capsule form, these drugs work by binding with the copper which is then passed from your body in urine.

Medication with penicillamine may have common side effects such as diarrhoea, loss of appetite and nausea. If these persist, you must alert medical staff. Penicillamine can, however, have more serious side effects such as:

joint pain
fever
skin rash, or itching (pruritus)
swelling and/or pain in your glands
losing your sense of taste
unusual bleeding (clotting problems) or bruising.

These side effects occur in around one in ten people. Penicillamine is also used to treat rheumatoid arthritis, kidney stones and other conditions. Potential side effects should be known to medical staff who will closely monitor you. If necessary, dosage of the drug may be lowered. Trientine is likely to have fewer side effects but should also be monitored. A new chelating drug called tetrathiomolybdate is being trialled for future treatment.

It may take up to three months before you notice any improvement in your condition from chelation therapy.

Zinc acetate

Another therapy uses zinc acetate (galzin). Zinc is known to block the absorption of copper by inducing a protein that binds copper in your intestinal cells. The copper is then lost in the faeces (stools) as the intestinal cells are shed into the gut. Because zinc does not remove copper from the body but blocks the absorption of copper from the diet a course of chelation therapy is used to first lower copper levels.

This medication is also taken orally. It has the benefi t of having fewer (if any) side effects than chelation therapy and is becoming more common. However, it does take considerably longer for the zinc to become effective (four to eight weeks).

It is likely you will be advised to follow a diet that is low in copper. Normally a person absorbs about 4mg of copper daily. This may mean reducing your intake to less than 1mg a day.

Who will be looking after me?

In hospital it is likely you will be treated either by a specialist in liver disease called a hepatologist, a specialist in digestive disorders called a gastroenterologist or a specialist in blood disorders called a haematologist.

Where you may have other conditions or problems caused by Wilson’s disease, additional specialists may be involved in your care. These are likely to be a neurologist (brain) or nephrologist (kidneys).

Further Information

Prevention of Wilson's Disease

Because it has a genetic cause it is not possible to prevent Wilson’s disease.

The large number of possible mutations so far detected in the ATP7B gene (approaching 300) prevents screening for Wilson’s disease in the general population. However, in people with abnormal copper levels that raises suspicion of the disorder, doctors will test for the mutation.

A DNA profile for close family members of a person with Wilson’s disease is recommended, particularly for brothers and sisters as they have a one in four chance of developing the disease. You may wish to talk to a genetic counsellor to find out more about an inherited disorder in your family. You can be referred for counselling by a GP or hospital consultant following diagnosis.

Carriers of Wilson’s disease may have only small abnormalities in their copper metabolism and are very unlikely to become ill. Most people with Wilson’s disease have no family history of the disease.

Looking after yourself when you have Wilson's Disease

Most foods contain copper, and some foods contain large amounts – for example, chocolate, nuts, mushrooms, shellfish and offal. However, treatment with chelating agents is usually very effective so there is no need to avoid these foods if you are taking your medication regularly and responding well.

D-penicillamine can increase your body’s requirement for pyridoxine (vitamin B6) so people being treated with D-penicillamine may need additional supplements.

The proportion of people with Wilson’s disease who develop cirrhosis varies, as it very much depends on age at diagnosis and response to treatment. Those who develop cirrhosis may need to follow special diet advice. Read more about diet and cirrhosis here.

Alcohol and Wilson's Disease

Anyone with a liver condition should approach alcohol with caution. It is a good idea to reduce your consumption to below recommended levels or abstain from drinking if you can. Drinking alcohol is likely to speed up and worsen the impact of Wilson’s disease. If you have cirrhosis it is sensible to avoid alcohol completely.

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