By Cooper Vinz Alternative Names Hepatolenticular degeneration Copper

By Cooper Vinz

Alternative Names • Hepatolenticular degeneration • Copper storage disease • Neurodegenerative disease of copper

Who is most likely to get the disorder? • People who get Wilson disease inherit two abnormal copies of the ATP 7 B gene (on chromosome 13), one from each parent. This is an Autosomal recessive inheritance pattern. Wilson disease carriers, who have only one copy of the abnormal gene, do not have symptoms. • About one in 40, 000 people get Wilson disease. It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group.

Symptoms of Wilson’s Disease A buildup of copper in the liver may • swelling of the liver or • spleen • yellowing of the skin and whites of the eyes • • fluid buildup in the legs or abdomen • • a tendency to bruise easily • • fatigue Yellowing of Skin and Eyes A buildup of copper in the central nervous system may result in problems with speech, swallowing, or physical coordination tremors or uncontrolled movements muscle stiffness behavioral changes Problem with coordination

How common is this disorder? One out of 30, 000 persons has Wilson's Disease. This adds up to 9, 000 people in the United States and 200, 000 people worldwide. This disorder is only common with people whose parents carried the disease, but is still uncommon to get the disease.

Is Wilson’s disease deadly? Without proper treatment Wilson’s disease is always fatal, it will shorten your life span to about 30 years of age. If treatment is begun early enough, recovery is usually complete, and a life of normal age and can be expected. However, if treatment is begun too late, recovery will be only partial and the disease will be fatal.

Can you be tested for Wilson’s disease? Biochemical Testing • Begin at age 2 if asymptomatic, repeat once in 5 years unless reason to pursue further. • • • You can be tested as young as age 2 • Regular Testing for Wilson’s Disease Physical examination and brief history of any liver or neurological symptoms. 24 hour urine copper. Examines amount of copper in urine. Slit-lamp exam of the eyes for Kayser-Fleischer rings. Copper rings in eyes. If no K-F rings, abnormal liver functions tests, liver bio

Is there a treatment to Wilson’s disease? The most common agent used for this purpose is D-penicillamine (Cuprimine, Depen) or chelating agents. This drug binds to copper and forms a stable compound that is then released in urine. Treatment for people with signs and symptoms of Wilson's disease usually starts with a chelating agent. A smaller amount of medication is necessary in maintaining the right amount of copper in your body. Recommend also is chelating agents to people who've been diagnosed with Wilson's disease, but don't have signs and symptoms. Chelating agent can lower the risk of liver damage for these people. Chelating agents do not cure Wilson’s disease they just mainly treats the symptoms. Chelating agents can be put into organs, like the liver to treat Wilson’s disease.

Wilson’s Disease Support Groups There are many support groups for Wilson’s disease. These support groups bring together people who have the disease and let them share their experiences with one another. These are some support groups available online. • http: //www. dailystrength. org/c/Wilsons. Disease/support-group • http: //www. mdjunction. com/wilsons-disease

Interesting Facts about Wilson’s Disease! • Hereditary copper accumulation has been described in Bedlington Terriers. • Howard Dell, former Olympic athlete, actor, and NFL player, fights Wilson’s disease and has had a liver transplant. • Genetic testing for Wilson disease is not yet possible.

Works Cited • http: //www. medterms. com/script/main/art. a sp? articlekey=11572 • http: //digestive. niddk. nih. gov/ddiseases/pubs /wilson/ • http: //www. wilsonsdisease. org/wilsondisease-inheritance. php • http: //www. wemove. org/wil_tre. html