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The liver of a person who has Wilson's disease expresses a mutant form of the protein called Wilson's disease protein,or WND. WND is a copper transporting protein that exports copper from liver cells. The mutant form of WND expressed in people with Wilson's disease inhibits the release of copper into bile. 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, and death.
Symptoms usually appear between the ages of 6 and 20 years, but sometimes not until the age of 30, and in rare instances up to age 50. The most characteristic sign is the Kayser-Fleischer ring--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. Many signs would be detected only by a doctor, like 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; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.
The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue. Patients will also need to take vitamin B6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Taking extra zinc may be helpful in blocking the intestines' absorption of copper.
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.