Wilson Disease

What Your Test Results Mean:

Carriers do not show any signs or symptoms of Wilson disease, however, carriers may be at an increased risk of having a child affected with Wilson disease. Carrier testing of your partner is recommended as well as consultation with a genetic counselor.

Disease Explained:

Wilson disease is an inherited disorder caused by inability or decreased ability for transporting copper from the liver to other parts of the body or eliminating it from the body. Copper build up causes damages to many organs and tissues in the body, specifically the brain and liver.

Signs and symptoms can first appear in childhood or may not appear until adulthood. Most individuals with Wilson disease are symptomatic by the teenage years. Liver disease is the most prominent symptom of this disorder. Jaundice (yellowing of the skin), fatigue, loss of appetite, and even swelling of the abdomen are common. In adulthood, symptoms are more generally seen in the nervous system as opposed to the liver; these can include tremors, difficulty walking and speaking, impaired ability to think, depression, anxiety, and mood swings.

Medications can help to manage Wilson disease. These medications are called chelating agents that help to release the copper in the body so it can be excreted properly. The next course of action is to help prevent copper from building up once more. This is typically done by limiting the amount of copper consumed. Copper is present in multivitamins, liver, shellfish, and nuts. If liver damage is extreme, a liver transplant may be necessary.

How the Genetics Works:

Wilson disease is an autosomal recessive disorder caused by pathogenic variants in the ATP7B gene. All individuals have two copies of the ATP7B gene. Carriers of type Wilson disease have a variant in one copy of the ATP7B gene, while individuals with the disorder have variants in both copies of ATP7B gene, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.

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