Wilson’s disease is a genetic disease that affects the body’s ability to get rid of extra copper. It is also called hepatolenticular degeneration. Copper, in small amounts, is an important nutrient in maintaining healthy nerves, bones, and collagen. Normally, copper is absorbed from food and excess copper is excreted in bile, which is a substance produced by the liver. In Wilson’s disease, the body is unable to eliminate copper adequately. Copper accumulates in the liver, brain, eyes, and kidneys. If diagnosed early, Wilson’s disease is treatable. If untreated, Wilson’s disease is fatal.
This disease is inherited as an autosomal recessive trait. It is caused by a mutation of the gene, ATP7B. To develop the disease, a person must inherit two copies of the mutated gene, one from each parent. If a person inherits only one copy of the mutated gene, that person is a carrier and passes the abnormal gene to the next generation. The mutated gene affects the protein which normally transports excess copper out of the liver. According to National Institute of Diabetes and Digestive and Kidney Diseases website, about one in 40,000 individuals in the United States develop Wilson’s disease. Men and women are affected equally and symptoms usually appear between the ages of five and 35. New cases have been reported in individuals from age two to 72.
The liver is the first organ affected by Wilson’s disease. Symptoms include swelling of the liver, jaundice, which is a yellowing of the skin and whites of the eyes, fatigue, edema or swelling in the abdomen and legs, and a tendency to bruise easily. The nervous system is affected by the accumulation of copper. Symptoms include difficulty with speech, swallowing, or physical coordination and involuntary movements or tremors. A person may experience behavioral changes and depression. Wilson’s disease can affect the eyes. Kayser-Fleischer rings are the most unique sign of this disease. The build-up of copper causes a rusty-brown ring to form around the iris or colored part of the eye surrounding the pupil. This distinctive ring forms around the cornea, which is the transparent outer membrane that covers the eye.