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?
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.
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.
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. 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.
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?