Unfortunately, the disorder often advances without causing noticeable symptoms. Our physicians at Yale Medicine are internationally recognized for our multidisciplinary treatment of Wilson disease, which includes diagnosis, management, and clinical trials. Wilson disease is rare. While older studies have estimated 1 in 30, people worldwide have it, newer studies of people's genes show it may be more common, and one study in the United Kingdom showed as many as 1 in 7, people have the gene mutation that is associated with Wilson disease.
At Yale, we have adult and pediatric liver, neurologic, psychiatric, and transplant specialists. Wilson disease is a rare inherited disorder in which the body is unable to rid itself of extra copper. Copper is found in many foods, including meat liver , seafood shellfish , nuts, seeds, grain, and cocoa products.
Typically, the body stores some copper in the liver, but under normal circumstances, excess copper is excreted into the gut through bile formed by the liver. But if you have Wilson disease, the copper accumulates in your liver and then is released directly into your bloodstream—thereby damaging your liver, brain, and other organs. Wilson disease is an inherited disease and is present at birth. Symptoms typically arise in childhood or adolescence though sometimes may not even be noticeable until well into adulthood.
Some of the oldest patients to be diagnosed were in their 80s, but most patients present by age The disease first attacks the liver and then the central nervous system—but both may be affected simultaneously, causing liver, neurological, and psychiatric problems.
Schilsky, who is also a professor of medicine digestive diseases and of surgery transplant at Yale School of Medicine. And early diagnosis can prevent disease progression. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson disease hepatitis.
Testing for Wilson disease should be performed in individuals with unexplained, abnormal liver tests. Search Our Site. About WDA. WDA Membership. History of WDA. Board of Directors. Medical Advisory Committee. Terms of Use. Contact Us. Generic Zinc Options. Kayser-Fleischer Rings.
Wilson Disease FAQs. Copper Connection Newsletter. The Big WOW. Annual WDA Conference. We Are Wilsons. Wilsons Warriors. The features of this condition include a combination of liver disease and neurological and psychiatric problems.
Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes jaundice , fatigue, loss of appetite, and abdominal swelling.
Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression , anxiety, and mood swings.
In many individuals with Wilson disease, copper deposits in the front surface of the eye the cornea form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.
Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body.
Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.
The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position of the prion protein.
0コメント