Wilson’s Disease

Wilson’s Disease is a genetic disorder that prevents the body from getting rid of extra copper. A small amount of copper obtained from food is needed to stay healthy, but too much copper is poisonous. In the case of Wilson’s Disease, copper builds up in the liver, brain, eyes and other organs. Over time, high copper levels can cause life-threatening organ damage.

Symptoms of Wilson’s Disease

Wilson’s Disease first attacks the liver, the central nervous system or both.
A buildup of copper in the liver may cause ongoing liver disease. Rarely, acute liver failure occurs. Most patients develop signs and symptoms that accompany chronic liver disease, including the following symptoms:

  • swelling of the liver or spleen
  • jaundice, or yellowing of the skin and whites of the eyes
  • fluid buildup in the legs or abdomen
  • a tendency to bruise easily
  • fatigue

A buildup of copper in the central nervous system may result in neurologic symptoms, including:

  • problems with speech, swallowing or physical coordination
  • tremors or uncontrolled movements
  • muscle stiffness
  • behavioral changes

Other signs and symptoms of Wilson’s Disease include:

  • anemia
  • low platelet or white blood cell count
  • slower blood clotting, measured by a blood test
  • high levels of amino acids, protein, uric acid and carbohydrates in urine
  • premature osteoporosis and arthritis

Kayser-Fleischer rings result from a buildup of copper in the eyes and are the most unique sign of Wilson’s Disease. They appear in each eye as a rusty-brown ring around the edge of the iris and in the rim of the cornea. The iris is the colored part of the eye surrounding the pupil. The cornea is the transparent outer membrane that covers the eye.

Causes of Wilson’s Disease

The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms. If a child inherits the gene from both parents, the child may develop Wilson’s Disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described.

Treatment of Wilson’s Disease

Wilson’s Disease requires lifelong treatment to reduce and control the amount of copper in the body. Various treatments are available for Wilson’s Disease. Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet. In general, a diet low in copper-containing foods is recommended. Maintenance therapy begins when symptoms improve and tests show that copper has been reduced to a safe level. Maintenance therapy typically includes taking zinc and low doses of either d-penicillamine or trientine hydrochloride. Blood and urine should be monitored by a health care provider to ensure that the treatment is keeping a strict control over the levels of copper in the body.  People with Wilson’s Disease should reduce their dietary copper intake. They should not eat shellfish or liver, as these foods may contain high levels of copper. Other foods high in copper—including mushrooms, nuts—should be avoided during initial therapy at a safe level.

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