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    Prevention

    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 biochemistry 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.

    Additionally, the presence of both psychiatric and physical symptoms can make Wilson’s disease diffi cult to diagnose. Symptoms are often nonspecific, meaning that they are hard to tell apart from those of other diseases, particularly hepatitis, alcoholic cirrhosis and other chronic liver diseases. Additionally, these symptoms may develop over time rather than appearing together at once.

    Personality changes that come on gradually can be especially hard to link to Wilson’s disease.

    How is Wilson’s disease inherited?
    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. Wilsons disease inheritance diagram

    To develop Wilson’s disease, both copies of the gene must be affected. For this reason it is known as a ‘recessive’ disorder, as opposed to a ‘dominant’ disorder where a mutation in only one of the genes is needed to cause a disease. Using data based on the whole population it is possible to work out the theoretical chance of a person inheriting the abnormal gene when this is carried by one or both of their parents.
     
    A person who has only one abnormal gene is known as a ‘carrier’. They are not usually affected but can pass on the abnormal gene to their own children. On average, half the eggs or half the sperm of a carrier will contain the abnormal gene.

    People who inherit a copy of the mutated gene from each parent are termed homozygotes. Those who inherit one mutated gene only (carriers) are called ‘heterozygote’.

    When both parents carry the abnormal gene there is a 25% chance of a child developing Wilson’s disease. On average, 50% of the children from this relationship will be carriers and 25% will be normal. These fi gures apply to all pregnancies arising from this relationship.

    In the rarest case, where both parents have Wilson’s disease, all of their children will inherit the abnormal gene and will develop the disorder.