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]

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.

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.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.