Wilson's disease


Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide.

The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.

Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.

Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.

In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.




Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.


Wilson disease diagnosis can be complicated and should be evaluated by a physician familiar with the various types of testing that can be done and how to interpret the tests. Because it is relatively rare, common signs such as psychiatric symptoms or hepatitis may at first be attributed to other causes.

Many people with Wilson's appear and feel healthy; severe liver damage can occur before there are symptoms of the disease. Wilson's often does not cause noticeable symptoms until it is serious. Your child's doctor will ask about symptoms and medical history, and perform physical and mental exams. Tests may include:

  • Blood tests and urine tests – to assess liver function, blood counts and measure levels of ceruloplasmin (a copper-carrying protein that is often low in Wilson Disease)
  • Urine tests to look for excess copper that is excreted in urine – if this test is performed it is important to make sure that the collection is complete, i.e. a full 24 hours of urine
  • Eye exam (typically by an ophthalmologist) – to look for brown, ring-shaped coloring in the cornea (Kayser-Fleischer rings)
  • Liver biopsy – a small sample of liver tissue is removed and tested for excess copper
  • Genetic testing – which is very helpful when positive. The testing is often expensive and one should inquire as to insurance coverage before the test is submitted.

These tests can show Wilson's disease before symptoms appear. This is why doctors suggest that all siblings of people with Wilson disease get testedThese tests can show Wilson's disease before symptoms appear. This is why doctors suggest that all siblings of people with Wilson disease get tested.

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Journal of Hepatology and Gastrointestinal disorders is an open accessed, peer reviewed journal, publishes papers reporting clinical and scientific research which are of a high standard and which contribute to the advancement of knowledge in the fields of hepatology and Gastro-intestinal system and its associated disorders. The editorial office promises a peer reviewing of the submitted manuscripts to maintain quality.

With Regards
Rose Jackson
Associative Editor