Wilson Disease is an inherited disorder that causes copper to accumulate in body tissues, especially in the liver, brain, and eyes.
Physical symptoms may include jaundice (yellowing) of the skin and of the sclera (white of the eye), fatigue, abdominal swelling, and loss of appetite. Psychiatric symptoms include clumsiness, tremors, speech problems, impaired thinking ability, and mood swings. Symptoms become more severe as copper accumulates. Symptoms of Wilson disease typically develop between 6 and 45 years old, with a majority of those with Wilson disease developing symptoms during their teenage years.
Wilson disease is caused by pathogenic (disease-causing) variants in the ATP7B gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 67 chance to be a carrier. Carriers of Wilson Disease typically do not experience any symptoms.
Other names for this condition include copper storage disease and hepatolenticular degeneration syndrome.
Resources:
National Organization for Rare Disorders (NORD)
Revised July 2022
