Wilson's Disease

Overview

Wilson's disease is a rare inherited condition that causes the body to retain copper. 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 can begin as late as age 40.

Causes

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 damages liver tissue. Eventually the damage causes the liver to release the copper directly into the bloodstream which then carries the copper throughout the body.

Symptoms

The most characteristic symptom 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 can be detected only by a doctor. These include:

  • 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

Other more obvious symptoms include:

  • jaundice which appears as yellowing of the eyes and skin
  • vomiting blood
  • speech and language problems
  • tremours in the arms and hands
  • rigid muscles

Treatment

Wilson's disease is treated with lifelong use of D-penicillamine or trientine hydrochloride drugs that help remove copper from tissue or zinc acetate which stops the intestines from absorbing copper and promotes copper excretion. Patients with this condition also need to take vitamin B6 and follow a low-copper diet which means avoiding mushrooms nuts chocolate dried fruit liver and shellfish.

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