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Wilson disease

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.

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Central nervous system
Copper urine test
Liver anatomy

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Causes

Wilson disease is a rare inherited disorder. If both parents carry a defective 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. This causes tissue damage, tissue death, and scarring. The affected organs stop working normally.

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

Symptoms may include:

Exams and Tests

A slit-lamp eye exam may show:

A physical exam 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.

Treatment

The goal of treatment is to reduce the amount of copper in the tissues. This is done by a procedure called chelation. Certain medicines are given that bind to copper and help remove it through the kidneys or gut. Treatment must be lifelong.

The following medicines may be used:

Vitamin E supplements may also be used.

Sometimes, medicines that chelate copper (such as penicillamine) can affect the function of the brain and nervous system (neurological function). Other medicines 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 managed 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

Wilson disease support groups can be found at www.wilsonsdisease.org and www.geneticalliance.org.

Outlook (Prognosis)

Life-long treatment is needed to control Wilson disease. The disorder may cause fatal effects, such as 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

Complications may include:

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

When to Contact a Medical Professional

Call your 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.

Related Information

Liver disease
Hepatitis B
Cirrhosis
Anemia
Contracture deformity

References

Cox DW, Roberts EA. Wilson disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 76.

Ferri FF. Wilson's disease. In: Ferri FF, ed. Ferri's Clinical Advisor 2018. Philadelphia, PA: Elsevier; 2018: 1479.e9-1479.e10.

Kaler SG, Schilsky ML. Wilson disease. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 211.

National Institute of Diabetes and Digestive and Kidney Diseases website. Wilson disease. www.niddk.nih.gov/health-information/liver-disease/wilson-disease. Updated July 2014. Accessed August 29, 2018.

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Review Date: 7/26/2018  

Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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