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Hepatolenticular Degeneration

more about Hepatolenticular Degeneration


Wilson's disease


  • Wilson's disease is an inherited disease that causes problems within the liver, psychiatric problems, and occasionally leads to problems within the brain.  It usually occurs in younger people.  However, if detected early, it can be treated.

  • Symptoms depend on where the copper is deposited.
  • This disease should be suspected when young patients have problems with their liver or spleen, develop problems with their blood, or if they develop psychiatric problems or certain problems with their brain.
  • Liver problems can be as simple as some lab test changes.  Occasionally, however, people can even have liver failure (cirrhosis).
  • When there is copper build-up on the cornea, patients develop brownish or gray-green colored rings around the eye.

  • This disease occurs because too much copper is absorbed by the intestine, and not enough is removed by the liver, resulting in an over abundance of copper in the body.  This then gets deposited in different areas of the body.
  • Places where the copper usually gets deposited include the liver, brain, cornea, and kidney.

  • Lab tests: tests can be done that show high amounts of copper in the urine, high amounts of copper in the liver, or by detecting low levels of ceruloplasmin (the blood's way of carrying copper around within the body) in the blood.
  • Sometimes a liver biopsy, where a needle is used to remove a piece of the liver, may be needed.

  • The goal is to make the diagnosis and begin treatment early.  It is best if treatment can be started before any liver or brain damage has occurred.
  • The first step is to decrease the amount of cooper that you eat.  This means eating less shellfish, legumes, or organ foods.  These have high amounts of copper.
  • Penicillamine, a drug that helps the body excrete copper, is the main treatment.  Vitamin B6 is usually given with this medicine to decrease any side effects.
  • In patients who cannot tolerate penicillamine, other treatments include trientine or oral zinc (which helps decrease copper absorption from the intestines).  Oral zinc can also be used in pregnant patients.
  • Treatment needs to be continued for life.  If patients are treated before the development of liver or brain damage, then the prognosis is good.
  • In patients with liver failure, severe liver inflammation, or for untreatable brain problems, liver
  • A transplant may be needed.


  • Special Information

- Because this is an inherited disease, family members, especially brothers and sisters, of the patient, need to be evaluated by a doctor.




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