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Wilson's disease (Hepatolenticular Degeneration)

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Diseases & Conditions  

Wilson's disease is a is caused by a build up of excess copper in the body. This potentially fatal disease shows up in a variety of different ways, but can remain silent for years.

Bile is the brown liquid produced by your liver to aid in digestion. Bile normally carries away excess copper from your liver. The liver of someone with Wilson's disease doesn't release copper into the bile as it should. The resulting buildup of copper in the liver causes injury to the tissue. Eventually, some of the excess copper travels throughout the body, where it may damage your brain, eyes, kidneys and red blood cells.

Left untreated, the liver damage can lead to cirrhosis, an irreversible scarring of the liver that seriously disrupts its normal functioning. Treatment involves taking medications and avoiding certain high-copper foods.

Signs and symptoms

Signs and symptoms of Wilson's disease usually appear between the ages of 6 and 20, but they can appear as late as age 50. The symptoms of Wilson's disease fall into three main categories:

  • Liver problems. Wilson's disease can mimic any form of acute or chronic liver disease. Possible signs and symptoms include abdominal pain and yellowing of the skin (jaundice). Sometimes, the liver damage progresses without any obvious symptoms until cirrhosis develops. In the advanced stages of disease, more serious signs and symptoms, such as anemia or the vomiting of blood, can occur.

  • Neurological problems. The most common neurological signs and symptoms in people with Wilson's disease are tremors and muscle spasticity. Speech problems may also occur.

  • Behavioral or psychological problems. Wilson's disease can cause abrupt personality changes and inappropriate behavior. Sometimes, signs and symptoms in school-age children, such as depression, erratic behavior or failing school performance, are mistaken for behavioral problems.

Some people with Wilson's disease are diagnosed incidentally during an eye exam after a doctor notices a brown, ring-shaped pigmentation, called a Kayser-Fleischer ring, in the cornea.

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