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Alternative Names Return to topHepatolenticular degeneration
Definition Return to top
Wilson's 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.
Causes Return to top
Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder.
Wilson's disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop working correctly.
This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4.
Symptoms Return to top
Exams and Tests Return to top
A slit-lamp eye examination may show:
A physical examination may show signs of:
Lab tests may include:
If there are liver problems, lab tests may find:
Other tests may include:
The gene responsible for Wilson's disease has been found. It is called ATP7B. DNA testing is available for this gene. However, testing is complicated because different ethnic groups may have different changes (mutations) in this gene.
Treatment Return to top
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:
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:
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 Return to top
Wilson's disease support groups can be found at www.wilsonsdisease.org and www.geneticalliance.org.
Outlook (Prognosis) Return to top
Lifelong treatment is required to control the disorder. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.
Possible Complications Return to top
Liver failure and damage to the central nervous system (brain, spinal cord) are the most common and dangerous effects of the disorder. If not caught and treated early, Wilson's disease is fatal.
When to Contact a Medical Professional Return to top
Call your health care provider if you have symptoms of Wilson's disease. Call a genetic counselor if you have a history of Wilson's disease in your family and you are planning to have children.
Prevention Return to top
Genetic counseling is recommended for people with a family history of Wilson's disease.
References Return to top
Kaler SG. Wilson's Disease. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 230.Update Date: 8/7/2008 Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.