Wilson's disease; Hepatolenticular degeneration
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.
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.
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 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.
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.
Wilson disease support groups can be found at
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.
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.
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.
Genetic counseling is recommended for people with a family history of Wilson disease.
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.
Last reviewed on: 9/11/2014
Reviewed by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.