Wilson disease

  • Definition
    • Wilson disease is an inherited disorder in which there is too much copper in the body's tissues. The excess copper damages the liver and nervous system.

  • Alternative Names
    • Wilson's disease; Hepatolenticular degeneration

  • Causes
    • Wilson disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson disease, there is a 25% chance in each pregnancy that the child will have the disorder.

      Wilson disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and eyes. The copper deposits cause tissue damage, tissue death, and scarring, which causes the affected organs to stop working correctly.

      This condition is most common in eastern Europeans, Sicilians, and southern Italians, but it may occur in any group. Wilson disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4.

  • Symptoms
  • Exams and Tests
    • A slit-lamp eye examination may show:

      • Limited eye movement
      • Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)

      A physical examination may show signs of:

      • Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and IQ, loss of memory, and confusion (delirium or dementia)
      • Liver or spleen disorders (including cirrhosis, splenomegaly, and liver necrosis)

      Lab tests may include:

      If there are liver problems, lab tests may find:

      Other tests may include:

      The gene that causes Wilson disease has been found. It is called ATP7B. DNA testing is available for this gene. Talk to your health care provider or a genetic counselor if you would like to have gene testing performed.

  • Treatment
    • The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation -- certain medications can bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong.

      The following medications may be used:

      • Penicillamine (Cuprimine, Depen) binds to copper and leads to increased release of copper in the urine.
      • Trientine (Syprine) binds (chelates) the copper and increases its release through the urine.
      • Zinc acetate (Galzin) blocks copper from being absorbed in the intestinal tract.

      Vitamin E supplements may also be used.

      Sometimes, medications that chelate copper (especially penicillamine) can affect the function of the brain and nervous system (neurological function). Other medications under investigation may bind copper without affecting neurological function.

      A low-copper diet may also be recommended. Foods to avoid include:

      • Chocolate
      • Dried fruit
      • Liver
      • Mushrooms
      • Nuts
      • Shellfish

      You may want to drink distilled water because most tap water flows through copper pipes. Avoid using copper cooking utensils.

      Symptoms may be treated with exercise or physical therapy. People who are confused or unable to care for themselves may need special protective measures.

      A liver transplant may be considered in cases where the liver is severely damaged by the disease.

  • Support Groups
  • Outlook (Prognosis)
    • Lifelong treatment is needed to control Wilson disease. The disorder may cause fatal effects, especially loss of liver function. Copper can have toxic effects on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.

  • Possible Complications
      • Anemia (hemolytic anemia is rare)
      • Central nervous system complications
      • Cirrhosis
      • Death of liver tissues
      • Fatty liver
      • Hepatitis
      • Increased number of bone fractures
      • Increased number of infections
      • Injury caused by falls
      • Jaundice
      • Joint contractures or other deformity
      • Loss of ability to care for self
      • Loss of ability to function at work and home
      • Loss of ability to interact with other people
      • Loss of muscle mass (muscle atrophy)
      • Psychological complications
      • Side effects of penicillamine and other medications used to treat the disorder
      • Spleen problems

      Liver failure and damage to the central nervous system (brain, spinal cord) are the most common and dangerous effects of the disorder. If Wilson disease is not caught and treated early, it can be fatal.

  • When to Contact a Medical Professional
    • Call your health care provider if you have symptoms of Wilson disease. Call a genetic counselor if you have a history of Wilson disease in your family and you are planning to have children.

  • Prevention
    • Genetic counseling is recommended for people with a family history of Wilson disease.

  • References
    • Brewer GJ. Wilson's disease. In: Longo DL, Fauci AS, Kasper DL, et al, eds. Harrison's Principles of Internal Medicine. New York, NY: McGraw-Hill; 2012:chap 360.