Wilson's Disease

Overview

Mayo Clinic offers state-of-the-art care for patients with Wilson's disease, including pre-symptomatic screening, molecular testing and up-to-date drug and dietary treatments. The goal is to identify the disease and begin treatment before symptoms cause serious problems.

Mayo Clinic Rochester has a special Wilson's Disease Clinic which brings together specialists from genetics, hepatology, neurology, psychiatry, laboratory medicine and nutrition to provide comprehensive care for patients and their families.

Diagnosis

Some estimate that at least half of Wilson's disease patients are never diagnosed and die of untreated disease. It is important to diagnose Wilson's disease early, before severe damage occurs. Symptoms of Wilson's disease typically begin to appear from early childhood through the 20s, with liver symptoms usually occurring first. Mayo Clinic laboratories offer comprehensive testing including urinary tests, blood tests, DNA testing and family screening. Read more about Wilson's disease diagnosis.

Treatment Options

Treatment for Wilson's disease is effective if diagnosis occurs before the onset of life-threatening symptoms. Typically a combination of oral medications and dietary changes is needed to halt disease progress. If treatment is stopped, the disease can be fatal. In the case of acute liver failure, a liver transplant may be necessary. For those with severe neurological dysfunctions, up-to-date management and rehabilitation therapy are provided. Read more about Wilson's disease treatment options.

• Treatment in Arizona
• Treatment in Florida
• Treatment in Minnesota
• Treatment of Children & Adolescents

About Wilson's Disease

Wilson's disease is a hereditary disorder that causes too much copper to accumulate in the body. The liver is responsible for removing excess copper, which is carried away in the bile, a brown liquid produced by the liver to aid in digestion.

The liver of someone with Wilson's disease doesn't release copper into the bile as it should. The resulting buildup of copper damages the liver. Left untreated, liver damage can lead to cirrhosis, an irreversible scarring of the liver that seriously disrupts its normal functioning. Eventually, some of the excess copper travels throughout the body, where it can damage the brain, eyes, kidneys and red blood cells. The disease is always fatal if not diagnosed and treated.

Wilson's disease is a genetic disorder. In order to inherit it, a child must receive an abnormal gene from both parents. This gene controls a protein that transports copper in the liver. People with only one abnormal gene are called carriers. Carriers may have mild but medically insignificant abnormalities of copper metabolism. Carriers do not become ill and should not be treated.

Read more at
www.MayoClinic.com
A service of Mayo Foundation for Education and Research