Can you die from wilson disease

Wilson disease can be difficult to diagnose. Many of the symptoms may look like symptoms of other diseases. To diagnose the condition, your provider will look at your overall health and ask about your past health. They will ask about your symptoms and give you a physical exam. Eye exam. Your provider uses a special lamp a slit lamp to check for brown Kayser-Fleischer rings in your eyes.

Blood tests. These can check the copper level in your blood and also detect any liver problems. This measures the amount of copper in your urine over 24 hours. Liver biopsy. A small sample of your liver is removed for testing. Genetic testing. A blood test can identify the abnormal genes that cause Wilson disease. There is no cure for Wilson disease. Lifelong treatment is needed to reduce the amount of copper in your body. Taking zinc supplements. Zinc prevents your body from absorbing copper from your diet.

Nervous system symptoms can make it difficult for you to function normally. Brain damage is also possible. There is no way to prevent Wilson disease. But genetic counseling may help you find out if your current or future children are at risk for the disorder.

Talk with your healthcare provider about genetic testing if you have a family or personal history of the condition. When someone has Wilson disease, their brothers or sisters should be tested. More distant relatives who have neurological or liver symptoms should also be tested.

Your provider may suggest you take medicine to help keep your copper level under control. You may also need to change your diet to help reduce your copper intake. These dietary changes include:. You should test your drinking water for copper or find a source of water that has no copper. It's also important to see your provider for regular follow-up visits and lab tests to make sure your copper levels are under control.

If you want to get pregnant or you are pregnant, tell your provider. You may need to change the amount of medicine you take while you are pregnant. Talk with your provider about other things you can do to keep your liver healthy. This includes getting vaccines for hepatitis A and B. Call your provider if you have psychological symptoms that get worse, such as thoughts of suicide.

Wilson disease is a rare genetic disorder that prevents your body from getting rid of extra copper in your system. Without treatment, the copper poisoning is fatal. There is no cure, but Wilson disease can be managed. Around one in 30, people have Wilson disease. It is caused by faults in a gene called ATP7B, which must be inherited from both parents for the disease to be expressed.

Wilson disease is also known as hepatolenticular degeneration. Symptoms of Wilson disease can appear in individuals ranging from three years to over 50 years of age. Symptoms depend on which structures of the body are affected by copper poisoning, but can include:. Enzymes are special proteins that help to spark chemical reactions in the body. The removal of excess copper relies on a particular enzyme, but this enzyme is defective in people with Wilson disease. Copper deposits then build up inside the body and cause damage.

Wilson disease is inherited in an autosomal recessive manner. This means that in order for a person to be affected by Wilson disease, they need to inherit two faulty genes, one from each parent. If both parents carry a faulty gene for Wilson disease, each child has a one in four chance of inheriting both faulty genes and being affected by Wilson disease.

Copper is common to a wide range of foods, but the human body needs only tiny amounts. The rest is excreted.

In people with Wilson disease, the excess copper leaves the bloodstream and settles in various organs and structures, including the brain, spinal cord, eyes, liver and kidneys.

Copper is a toxic substance in large amounts, and causes damage to your tissues. The damaged tissues die and are replaced by scar tissue. As more and more tissue is replaced by scars, the affected organ loses its ability to function until it eventually fails. Without treatment, Wilson disease is fatal.

The longer the copper poisoning continues, the harder it is to successfully treat, so early diagnosis is important. The aims of treatment are to reduce the amount of copper in the body and control the symptoms. Treatment must be lifelong. Certain medicines are given that bind to copper and help remove it through the kidneys or gut.

Treatment must be lifelong. Sometimes, medicines that chelate copper such as penicillamine can affect the function of the brain and nervous system neurological function. Other medicines under investigation may bind copper without affecting neurological function. You may want to drink distilled water because some tap water flows through copper pipes. Avoid using copper cooking utensils.

Symptoms may be managed with exercise or physical therapy. People who are confused or unable to care for themselves may need special protective measures. A liver transplant may be considered in cases where the liver is severely damaged by the disease. Wilson disease support groups can be found at www. Life-long treatment is needed to control Wilson disease.

The disorder may cause fatal effects, such as loss of liver function. Copper can have toxic effects on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling. Liver failure and damage to the central nervous system brain, spinal cord are the most common and dangerous effects of the disorder.

If the disease is not caught and treated early, it can be fatal. Call your provider if you have symptoms of Wilson disease. Call a genetic counselor if you have a history of Wilson disease in your family and you are planning to have children.

Wilson disease. Updated November