By Dr_Trisha-Macnair Published 01/23/2016 14:15:00 | Views: 438

What is it?

Normally the affected gene produces a protein that transfers copper from the liver cells into the bile. If this gene is abnormal - and protein isn't being made - copper can't then be excreted from the body, so it builds up in the liver, brain, kidney and cornea.

If Wilson's disease is not treated, the excess copper builds up in the liver and brain causes brain damage, liver failure, and eventually causes death. There may also be a reduction in the manufacture of a protein called caeruloplasmin, which normally carries copper around in the blood.

The symptoms

Symptoms usually appear between the ages of six and 20 - but can show up as late as 50. Symptoms wil also depend on which organ has been damaged.

  • The first part of the body to be affected is the liver. In about 50 per cent of Wilson's disease cases, the liver is the only organ of the body affected. Younger children (under 12) often suffer from a liver disease such as hepatitis, liver failure or cirrhosis.
  • Jaundice, vomiting blood, abdominal swelling and pain may develop because of liver damage.
  • Kidney problems include rickets and haemolytic anaemia.
  • Neurological problems are common in the second decade of life and include deteriorating coordination, tremors, problems with speech and swallowing, involuntary movements and deterioration in school work.
  • Mental illness may develop when the brain is damaged, causing changes in behaviour (including homicidal or suicidal feelings), depression and aggression.
  • Women may suffer from menstrual irregularities, absent periods, infertility or multiple miscarriages.
  • The most characteristic sign of Wilson's disease is a rusty brown ring around the cornea of the eye, called the Kayser-Fleischer ring.


Sometimes people with Wilson's disease have little evidence of the disease. However, as they'll eventually become seriously ill, all those born into a family with a history of Wilson's disease should be tested for it. Diagnosis, using blood tests and a liver biopsy to examine levels of copper and caeruloplasmin, is simple. At the moment, no genetic tests for screening or prenatal diagnosis are available.


At present, it's not possible to prevent Wilson's disease and there is no cure. Lifelong treatment is essential because without it, Wilson's disease is fatal. About 30 per cent of children will die from liver complications if left untreated.

If Wilson's disease is detected early and treated correctly, an affected person can enjoy normal health. A low-copper diet is important and patients need to take vitamin B6 supplements. Drugs such as penicillamine, zinc and pyridoxine are used to help remove excess accumulated copper from body tissues and to prevent copper re-accumulating and damage to the nerves. Although these drugs may have side effects, they can dramatically improve symptoms.

Genetic factors

Some cases of Wilson's disease occur because of spontaneous mutations in the gene, but most people inherit it. A person who inherits Wilson's disease has an abnormal gene from both parents, which makes it an autosomal recessive pattern of inheritance.

It's estimated that as many as two per cent of the population carry one faulty copy of the gene carriers (heterozygotes). These people may have mild, but medically insignificant, abnormalities of copper metabolism. Carriers don't become ill.

The affected gene is called ATP7B and is found on chromosome 13. As many as 30 different mutations of this gene have now been described.


By Dr_Trisha-Macnair 01/23/2016 14:15:00

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