NINDS Wilson's Disease Information Page: NINDS

Article title: NINDS Wilson's Disease Information Page: NINDS
Main condition: Wilson's Disease
Conditions: Wilson's Disease

Table of Contents (click to jump to sections)

What is Wilson's Disease?
Is there any treatment?
What is the prognosis?
What research is being done?

Selected references
Organizations

What is Wilson's Disease?
Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. Although the accumulation of copper begins at birth, symptoms of the disorder appear later in life, between the ages of 6 and 40. The primary consequence for approximately 40 percent of patients with Wilson's is liver disease. In other patients the first symptoms are either neurological or psychiatric or both, and include tremor, rigidity, drooling, difficulty with speech, abrupt personality change, grossly inappropriate behavior and unexplicable deterioration of school work, neurosis or psychosis.

Is there any treatment?
Treatment of Wilson's disease generally consists of anti-copper agents to remove excess copper from the body and to prevent it from reaccumulating. Most cases are treated with the drugs zinc acetate, trientine, or penicillamine. Penicillamine and trientine increase urinary excretion of copper, however, both drugs can cause serious side effects. Zinc acetate � which blocks the absorption of copper, increases copper excretion in the stool, and causes no serious side affects � is often considered the treatment of choice. Tetrathiomolybdate, an experimental drug, also shows promise in treating Wilson's disease. In rare cases in which there is severe liver disease, a liver transplant may be needed.

What is the prognosis?
Without proper treatment, Wilson's disease is generally fatal, usually by the age of 30. If treatment is begun early enough, symptomatic recovery is usually complete, and a life of normal length and quality can be expected.

What research is being done?
NINDS supports research to find ways to treat and prevent inherited disorders such as Wilson's disease. The ultimate goal of this research is to discover new treatments for the many genetic disorders that strike the brain and nervous system, including Wilson's disease.

Selected references

Anderson, LA, Hakojarvi, SL, and Boudreaux, SK.
Zinc Acetate Treatment in Wilson's Disease. The Annals of Pharmacotherapy 32; 78-87 (January 1998)

Brewer, GJ.
Recognition, Diagnosis, and Management of Wilson's Disease. Proceedings of the Society of Experimental Biology and Medicine 223; 39-46 (January 2000)

Brewer, GJ, et al.
Treatment of Wilsons Disease with Zinc: XV Long-term Follow-up Studies. Journal of Laboratory and Clinical Medicine 132; 264-278 (October 1998)

Brewer, GJ.
Practical Recommendations and New Therapies for Wilson's Disease. Drugs 50; 240-249 (1995)

Houwen, R, Roberts, E, Thomas, G, and Cox, D.
DNA markers for the diagnosis of Wilson disease. Journal of Hepatology 17; 269-276 (1993)

Sternlieb, I.
The outlook for the diagnosis of Wilson's disease. Journal of Hepatology 17:3; 263-264 (March 1993)

Organizations

American Liver Foundation
75 Maiden Lane
Suite 603
New York, NY 10038-4810
webmail@liverfoundation.org
http://www.liverfoundation.org/
Tel: 800-GO LIVER (465-4837) 212-668-1000
Fax: 212-483-8179

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
resourcecenter@modimes.org
http://www.modimes.org/
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institutes of Health
Bldg. 31, Rm. 9A04
Bethesda, MD 20892-2560
http://www.niddk.nih.gov/
Tel: 301-496-3583

Wilson's Disease Association, International
c/o H. Ascher Sellner, M.D.
4 Navaho Drive
Brookfield, CT 06804
hasellner@worldnet.att.net
http://www.wilsonsdisease.org/
Tel: 203-775-9666 800-399-0266
Fax: 203-743-6196

This fact sheet is in the public domain. You may copy it.

Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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