Wilson disease

What is Wilson disease?
Wilson disease is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes. Although copper accumulation begins at birth, symptoms of the disorder appear later in life. The most characteristic symptom of Wilson disease is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp. The primary consequence for most of those with Wilson disease is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms occur later in adulthood and most commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling. Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia). Individuals may also experience clumsiness (ataxia) and loss of fine motor skills. A third of those with Wilson disease will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis. Wilson disease is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.

Is there any treatment?
Wilson disease requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating. Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious side effects. Tetrathiomolybdate is an investigational drug with a lower toxic profile, but it has not been approved by the Food and Drug Administration for the treatment of Wilson disease and its long-term safety and effectiveness aren’t known. A low-copper diet may also be recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.

What is the prognosis?
Early onset of the disease is worse than late onset in terms of prognosis. If the disorder is detected early and treated appropriately, an individual with Wilson disease can usually enjoy normal health and a normal lifespan. If not treated, Wilson disease can cause severe brain damage, liver failure, and death. The disease requires lifelong treatment.

What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to Wilson disease in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. The recent identification of the copper transporting gene ATP7B, which in its mutated form causes Wilson disease, should lead to the design of better therapies for this disorder.

NIH Patient Recruitment for Wilson's Disease Clinical Trials
Throughout the U.S. and Worldwide

Organizations
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
https://www.liverfoundation.org
800-GO LIVER (465-4837), 212-668-1000

March of Dimes
1275 Mamaroneck Avenue
White Plains, NY 10605
www.marchofdimes.org
914-997-4488, 888-MODIMES (663-4637)

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health, DHHS
31 Center Drive, Rm. 9A06 MSC 2560
Bethesda, MD 20892-2560
https://www.niddk.nih.gov
301-496-3583, TTY: 866-569-1162

Wilson Disease Association
5572 N. Diversey Blvd.
Milwaukee, MI 53217
https://www.wilsonsdisease.org
414-961-0533, 866-961-0533

This information was developed by the National Institute of Neurological Disorders and Stroke.

National Institute of Neurological Disorders and Stroke. NINDS Wilson's Disease Information Page. Available at: https://www.ninds.nih.gov/health-information/disorders/wilson-disease. Accessed April 26, 2023.

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