What Is Wilson Disease? Wilson disease, caused by mutations in the ATP7B gene, is an inherited condition that causes the body to retain too much copper. The extra copper deposits in the liver, brain, kidneys, and eyes leading to damage and scarring in the tissues and causing the affected organs to stop working properly. Symptoms typically first appear in childhood or early adolescence, but they can appear as early as age 3 or as late as age 70. The most common symptoms are liver disease and neurological impairment. Liver disease can first appear as fatigue, abdominal pain, or a yellowing of the skin and the whites of the eye (jaundice). Sometimes the result is liver failure, which requires a liver transplant. Neurological impairment can include tremors, clumsiness, problems walking, trouble swallowing, and impaired thinking. Some individuals with Wilson disease also develop psychiatric problems including depression, anxiety, behavioral problems, mood changes, and difficulty with attention. Extra copper in the kidneys may also cause problems that sometimes lead to kidney failure. Individuals with Wilson disease may also have arthritis, weaker bones, heart problems, pancreatitis, and endocrine disorders. Extra copper in the eyes can cause brown circles, referred to as Kayser-Fleischer rings, around the colored part of the eyes, but this does not affect vision. How Common Is Wilson Disease? The prevalence of Wilson disease is approximately 1 in 30,000 individuals worldwide. In China, Japan, and Sardinia, Wilson disease is more common and may affect as many as 1 in 10,000 individuals. How Is Wilson Disease Treated? Wilson disease should be treated as soon as possible. Most individuals with the condition take D-penicillamine or trientine by mouth several times a day. This medicine traps (chelates) the excessive copper and helps remove it from the body through the urine. This can help prevent or reduce some of the liver, neurological, and psychiatric symptoms. People on this medication often also need to take vitamin B6 (pyridoxine) as a supplement. Treatment should continue for the whole life of the patient. Sometimes a liver transplant will still be needed. People with Wilson disease should also avoid eating food that contains a lot of copper, such as organs, chocolate, mushrooms, shellfish, and nuts. What Is the Prognosis for an Individual with Wilson Disease? Frequent monitoring of the blood and urine and lifelong treatment are important. Without proper treatment, an individual with Wilson disease usually suffers progressively worse liver, neurological, and psychiatric symptoms until they die from liver or neurological disease. With proper treatment, individuals with Wilson disease can often have normal lifespans. Other names forWilson disease Copper storage disease Hepatolenticular degeneration Wilson's disease References Heinz, 2016, https://www.ncbi.nlm.nih.gov/books/NBK1512/ OMIM: Online Mendelian Inheritance in Man, OMIM , 2016, https://www.omim.org/entry/277900 Rodriguez-Castro et al., 2015, World J Hepatol, 7(29):2859-70, PMID: 26692151 Shah et al., 1997, Am J Hum Genet, 61(2):317-28, PMID: 9311736 Thomas et al., 1995, Nat Genet, 9(2):210-17, PMID: 7626145 Resources National Organization for Rare Diseases A patient advocacy organization dedicated to the identification, treatment, and cure of rare diseases through education, advocacy, research, and patient services. Wilson Disease Association A non-profit organization that supports people with Wilson disease and their families. It also funds medical research into the disease. Address: 1732 First Avenue #20043 New York, NY 10128 Phone: 866-961-0533 (888) 264-1450 American Liver Foundation A non-profit organization providing research, education, and advocacy for people affected by liver-related diseases. Phone: 800-465-4837 Genetics Home Reference Genetics Home Reference provides patient-friendly information about the effects of genetic variation on human health.