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.
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:
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a failing voice, slurring, drooling
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difficulty in swallowing
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loss of memory and mental confusion.
Around a third of people with Wilson’s disease may experience psychiatric symptoms such as:
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).
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.
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.
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
Looking after yourself when you have Wilson's Disease
A low copper diet does not mean you have to avoid copper completely. As many foods contain copper, reducing and balancing your intake of certain foods (rather than steering clear of them) is the most realistic way of getting the nutrients you need. Your doctor or a dietician can advise you on managing your diet to achieve this.
The following foods are commonly known to contain a very high concentration of copper:
- mushrooms
- nuts
- chocolate
- dried fruits such as raisins, dates and prunes
- dried beans such as soy, lima, pinto and even baked beans
- dried peas and lentils
- grains such as whole wheat, barley and millet
- soya products such as soya milk and tofu
- offal such as liver, heart and kidneys
- shellfish such as oysters, mussels, shrimps and prawns.
This list is by no means exhaustive. The copper content in foods can also vary depending on a number of factors such as the location of the soil in which the food was grown (copper-containing compounds may be used in farming or agriculture) or the method or utensils used to process the food.
It is also recommended that you try to drink distilled or ‘de-mineralised’ water rather than water from a tap that may have flowed through copper pipes.
If you are being treated with penicillamine you may require further supplements of vitamin B. This is because penicillamine can increase your body’s need for pyridoxine (vitamin B6). It is useful to ask your doctor if you require supplements and if these should be prescribed or bought from a pharmacy.
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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