For more information on genetic counseling, call To see related gastroenterological medical services we offer, visit our Digestive and Liver Health overview page. To schedule an appointment to discuss questions or concerns about Wilson disease, call us toll-free at Updated visitor guidelines.
Wilson Wilson's Disease. Rare Disease web img. Wilson Disease Symptoms Some patients have either liver or neurologic involvement only, but many have both. Liver-Related Symptoms of Wilson Disease: Feeling tired Jaundice yellow eyes and skin Ascites swelling of the abdomen due to accumulation of fluid Mental confusion Anemia especially if present acutely in young patients May present as acute liver failure, abnormal liver enzymes, or cirrhosis.
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Support the hospital by making a donation online , joining our Heroes in Healing monthly donor program , or visiting our site to learn about the other ways you can give back. Our Sites. Liver Disease States. Liver Transplant. Wilson Disease Symptoms in Children Wilson's disease symptoms usually start in childhood or adolescence, but have been reported in individuals who were greater than 60 years of age. These include: Symptoms of excess copper in the liver, such as: Jaundice yellowing of the skin and eyes Swelling or pain in the abdomen Bleeding tendency Vomiting blood Fatigue Psychiatric symptoms of excess copper in the brain, such as: Depression Anxiety Mood swings Aggressive or other inappropriate behaviors Physical symptoms of excess copper in the brain, such as: Difficulty speaking and swallowing Tremors Rigid muscles Problems with balance and walking Wilson Disease Diagnosis Wilson disease diagnosis can be complicated and should be evaluated by a physician familiar with the various types of testing that can be done and how to interpret the tests.
Tests may include: Blood tests and urine tests — to assess liver function, blood counts and measure levels of ceruloplasmin a copper-carrying protein that is often low in Wilson Disease Urine tests to look for excess copper that is excreted in urine — if this test is performed it is important to make sure that the collection is complete, i.
Experts are still studying how common Wilson disease is. Older studies suggested that about 1 in 30, people have Wilson disease. A study in the United Kingdom found that about 1 in 7, people have gene mutations that cause Wilson disease.
One reason might be that some people with Wilson disease are not diagnosed. People have a higher chance of having Wilson disease if they have a family history of Wilson disease, especially if a first-degree relative—a parent, sibling, or child—has the disease.
People who have Wilson disease typically develop symptoms when they are between ages 5 and Doctors have found the first symptoms of Wilson disease in infants as young as 9 months and in adults older than 70 years. Wilson disease may lead to complications, but early diagnosis and treatment can lower your chances of developing them. Early treatment can help reverse neurological issues and liver damage.
People in the advanced stages may have to learn how to manage their symptoms over the course of their life. The biggest indicator for this condition is family history, but the mutated gene can skip a generation. You may want to ask for a genetic test alongside the other tests your doctor will schedule. Medication includes chelating agents and zinc and may take up to six months to work. Uncoordinated movement may be a sign of disrupted communication between the brain and body.
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