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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Wilson disease


Other Names for this Disease
  • Hepatolenticular degeneration
  • WD
  • WND
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have been diagnosed with Wilson disease. What are the long-term effects of this disease? Will I need to be on medication for the rest of my life? What are the chances that my children will have Wilson disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the long-term outlook for people with Wilson disease?

The long-term outlook (prognosis) for people with Wilson disease varies and largely depends on timely diagnosis and treatment. If the condition is detected early and treated appropriately, people with Wilson disease can usually enjoy normal health and a normal lifespan. Unfortunately, untreated Wilson disease is associated with severe brain damage, liver failure, and death.[1]
Last updated: 2/5/2014

How might Wilson disease be treated?

There is currently no cure for Wilson disease; however, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. Affected people require lifelong treatment, which may include certain medications and/or dietary modifications. If treatment is not effective or if liver failure develops, a liver transplant may be necessary.[2][3][4]

For more specific information on the treatment and management of Wilson disease, please visit the National Institute of Diabetes and Digestive and Kidney Disease's (NIDDK) website and/or GeneReviews. Click the link to view these resources.
Last updated: 2/5/2014

If I have Wilson disease, what are the chances that my children will have it too?

Wilson disease is inherited in an autosomal recessive manner.[5] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition.

Children of an affected person will definitely inherit one mutation from their affected parent. They will not develop Wilson disease unless they also inherit a second disease-causing mutation from their other parent. Because approximately 1 out of every 90 people in the general population are carriers of Wilson disease, the likelihood that an affected person will have an affected child is one in 180.[6]

People interested in learning more about the genetics of Wilson disease or their risk of developing or transmitting this condition should consult with a genetics professional.
Last updated: 2/5/2015

How can I find a genetics professional in my area?

Genetics clinics are a source of information for people and families with a genetic condition. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
  • The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
  • The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
  • The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
  • The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
Last updated: 2/6/2015

References
Other Names for this Disease
  • Hepatolenticular degeneration
  • WD
  • WND
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.