Wilsons Disease

Wilsons Disease

Wilson disease is a rare inherited disorder that causes excess copper to accumulate in the body. It is also known as hepatolenticular degeneration. Steadily increasing amounts of copper circulating in the blood are deposited primarily in the brain, liver, kidneys, and the cornea of the eyes. WD is fatal if it is not recognized and treated. It is named for a U.S. neurologist, Samuel A. K. Wilson, who first described it in 1912.


Symptoms

Symptoms typically present between the ages of 3 and 60, with age 17 considered to be the average age a diagnosis is made. About half of all patients experience their first symptoms in the liver. An often-fatal manifestation of liver disease is called fulminant hepatitis. This extremely severe inflammation of the liver (hepatitis) results in jaundice, fluid leaking into the abdomen, low protein circulating in the blood, abnormalities of the blood clotting system, swelling of the brain, and anemia due to the abnormal destruction of red blood cells Neurological symptoms are the first to occur in half of all patients due to copper accumulation in the brain and nervous system. The average age of onset for neurological symptoms is 21. These symptoms include tremors of the hands, uncontrollable movements of the limbs, stiffness, drooling, difficulty swallowing, difficulty talking, and headache. There is no change in patient’s intelligence.

Inheritance pattern

Wilson disease is an autosomal recessive disease, which means it occurs equally in men and women. In order to inherit Wilson disease, both parents must carry one genetic mutation (abnormal alteration in the gene) that each parent passes to the affected child. At least one in 30,000 people of all known races and nationalities has the disease. Of the 23 different human chromosomes, the gene responsible for Wilson disease is located on chromosome 13. The gene is called ATP7B and it contains the genetic information necessary to make a copper transport protein that plays a key role in incorporating copper into ceruloplasmin and moving excess copper out of the liver.


Big image

Treatment

Treatment involves life-long administration of either D-penicillamine (Cuprimine, Depen) or trientine hydrochloride (Syprine). Both of these drugs remove copper deposits throughout the body by binding to the copper which then leaves the body in the urine. This type of treatment is called chelation therapy. Zinc acetate (Galzin) and a low copper diet are other ways in which to treat Wilson disease. Finally, patients with Wilson disease are encouraged to follow a diet low in copper, with an average copper intake of 1.0 mg per day.


Works Cited

Longe, Jacqueline L., ed. "Wilson Disease." The Gale Encyclopedia of Medicine. N.p., n.d. Web. 22

May 2013. This database has provided information about the symptoms, inheritance patterns, and

treatments of the Wilson disease.

Magill. "Wilson's Disease." Medical Guide. California USA: Salem Press Inc, 2008. 2885-86. Print.

This book provides information about treatments and symptoms of the disease known as the Wilson

disease.

Wilson's Disease Association. N.p., n.d. Web. 22 May 2013. <http://www.wilsonsdisease.org/

wilson-disease/wilsondisease-inheritance.php>. This website provided information about the

inheritance pattern.