What Is Wilson's Disease?

Wilson’s disease is a rare inherited disorder marked by a defect in the body's ability to excrete copper. Consequently, excess copper accumulates in body tissues—primarily the liver and brain—causing organ damage and a myriad of possible symptoms and complications.

The disorder is present from birth, but symptoms are rare before age six. Half of those affected remain asymptomatic through adolescence, and in rare cases the disease will not be apparent until adulthood.

Treatment is essential whether or not symptoms are present. Untreated Wilson’s disease can lead to hepatitis, cirrhosis and brain damage, often before age 20, and is ultimately fatal. Early detection and treatment of Wilson’s disease can prevent symptoms and complications entirely. Children whose siblings or parents have the disease should be tested at birth. With lifelong treatment, prognosis is excellent.

What Causes Wilson's Disease?

  • A recently discovered genetic defect prevents the normal excretion of copper in the bile and leads to excess storage of copper.

Symptoms of Wilson's Disease

  • Fatigue, weakness, loss of appetite and jaundice, resembling viral hepatitis
  • Muscle rigidity, spasms and tremors
  • Walking difficulty
  • Swallowing difficulty; drooling
  • Progressive intellectual impairment; speech difficulties; psychological deterioration; personality changes; bizarre behavior
  • In advanced stages, symptoms due to chronic active hepatitis or cirrhosis, including swelling and fluid accumulation in the abdomen and vomiting of blood
  • Lightheadedness; paleness (pallor); heart palpitations, chest pain or shortness of breath on exertion (due to associated anemia)
  • Cessation of menstruation (amenorrhea)

Wilson's Disease Prevention

  • There is no way to prevent Wilson’s disease, but a family history of the disorder warrants diagnostic testing so that symptoms and complications may be prevented by early detection and treatment.
  • Diagnosis of Wilson's Disease

    • Patient and family history; physical examination
    • Blood tests show low levels of the copper-carrying protein ceruloplasmin, as well as anemia.
    • Urine tests may show increased levels of copper.
    • Liver biopsy can be performed to determine the amount of copper in the liver.
    • Diagnosis is confirmed by a liver biopsy (removal of a small sample of liver tissue) showing excessive levels of copper.
    • MRI of the brain can be performed to provide clear images of the brain.
    • Detection of a Kayser-Fleischer ring—a green or golden deposit of copper in the cornea—may require a special examination by an ophthalmologist.
    • Genetic testing (DNA mutation analysis)

    How to Treat Wilson's Disease

    • Treatment with penicillamine, a medication that binds copper, removes copper from the body by increasing its excretion in the urine. In about 10 percent of patients, allergy to penicillamine develops, occasionally requiring the administration of prednisone. In some cases trientine or zinc acetate may be prescribed instead of penicillamine.
    • Because penicillamine counteracts vitamin B6 (pyridoxine), supplements of pyridoxine are given to avoid damage to the nervous system.
    • Intake of foods high in dietary copper—including mushrooms, nuts, dried fruit, liver, shellfish and chocolate—may be restricted.
    • Regular lifelong checkups are necessary to detect for side effects of the medication and to monitor the effectiveness of therapy by measuring copper levels in the urine.
    • In advanced cases where cirrhosis of the liver is extensive, a liver transplant may be advised.

    When to Call a Doctor

    • Call a doctor if you or your child develops tremors, psychological changes, fatigue or jaundice, especially if there is a family history of Wilson’s disease.

    Source:

    Johns Hopkins Symptoms and Remedies: The Complete Home Medical Reference

    Simeon Margolis, M.D., Ph.D., Medical Editor

    Prepared by the Editors of The Johns Hopkins Medical Letter: Health After 50

    Updated by Remedy Health Media

    Publication Review By: the Editorial Staff at HealthCommunities.com

    Published: 14 Oct 2011

    Last Modified: 23 Sep 2014