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Wilson's Disease

What is Wilson's Disease?

Wilson's disease is a condition characterized by the body retaining copper.

The liver of a person who has Wilson's disease does not release copper into bile as it should. Bile is a liquid produced by the liver that helps with digestion. As the intestines absorb copper from food, the copper builds up in the liver and injures liver tissue.

Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, kidney failure and death.

What Causes Wilson's Disease?

Wilson's disease is hereditary. Symptoms usually appear between the ages of 6 and 20 years, but can begin as late as age 40.

Symptoms of Wilson's Disease

The most common symptom of Wilson's disease is a rusty brown ring around the cornea of the eye that can be seen only through an eye exam. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system.

Other common symptoms are:

  • swelling of the liver and spleen
  • fluid buildup in the lining of the abdomen
  • anemia
  • low platelet and white blood cell count in the blood
  • high levels of amino acids, protein, uric acid, and carbohydrates in urine
  • softening of the bones
  • jaundice
  • vomiting blood
  • speech and language problems
  • tremors in the arms and hands
  • rigid muscles

How is Wilson's Disease Diagnosed?

Wilson's disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver. An eye exam would detect the brown ring around the cornea of the eye.

Can Wilson's Disease be Treated?

Yes. Wilson's disease requires lifelong treatment. If the disorder is detected early and treated correctly, a person with Wilson's disease can enjoy completely normal health.

Treatment is aimed at removing the copper from organs and tissue and preventing the intestines from absorbing copper. It is is treated with lifelong use of D-penicillamine or trientine hydrochloride. Patients will also need to take vitamin B6 and follow a low-copper diet. A low-copper diet includes avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish.

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