Wilson disease

Wilson disease is caused by changes or variants in the ATP7B gene. It runs through families in an autosomal recessive pattern, meaning that for an individual to have the disease they must inherit a nonworking ATP7B gene from each parent. Therefore, two nonworking copies of the ATP7B gene are required for an individual to have Wilson disease. Carriers do not have Wilson disease, but they have a 50% chance of passing on the nonworking ATP7B gene to each of their children. Approximately 1 in every 90 people are carriers for Wilson disease.

Wilson disease is found in people of different backgrounds and ethnicities all over the world; however, the incidence of is higher in individuals of Ashkenazi Jewish background and those from several specific geographic areas including:

• Sardinia, Italy
• Apulia, Italy
• The Island of Gran Canaria in the Canary Islands, Spain
• The Island of Kalymnos, Greece
• Upper Austria
• Iceland
• Spain

Wilson disease is an inherited disorder caused by changes or variants in the ATP7B gene. The ATP7B gene makes a protein that helps the liver process and get rid of excess copper. Individuals with Wilson disease are not able to excrete excess copper and, as a result, copper builds up in the liver, brain, kidney and eyes. If left untreated, Wilson disease causes very serious health problems that can lead to liver failure, brain damage and death.

Signs and symptoms of Wilson disease typically appear between 5 and 35 years of age; however, symptoms can appear as late as 70 years. Wilson disease can range in severity from person to person. The most common signs and symptoms are liver disease, anemia, problems with muscle rigidity/tremors, poor coordination, mood or psychiatric disturbances, and the appearance of rusty brown ring around the cornea of the eye, also called Kayser-Fleischer rings. Early detection and treatment can aid in preventing serious symptoms and organ damage. Treatment consists of chelation therapy, which help get rid of the excess copper through urinary excretion, and zinc supplementation, which helps prevent copper absorption from food in the digestive tract.

Other names for Wilson disease include copper storage disease, hepatolenticular degeneration syndrome, progressive lenticular degeneration, WD, and Wilson disease.

The usual abbreviation for Wilson disease is WD.