Wilsons Disease Information

Wilsons Disease is very common Disorders and it is also known as hepatolenticular degeneration. Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. It affects about one in thirty thousand people worldwide. This hereditary disease is caused by a defect in the body's ability to metabolize copper that results in an accumulation of copper deposits in organs such as the brain, liver, and kidneys. The most characteristic sign is the Kayser-Fleischer ring—a rusty brown ring around the cornea of the eye that can be seen only through an eye exam.

In 1912, Dr. Samuel Kinnear Wilson described a disorder he called "progressive lenticular degeneration." Wilson's Disease is transmitted as an autosomal recessive disease, which means it is not sex-linked (it occurs equally in men and women). In order to inherit it, both of ones parents must carry a gene which each passes to the affected child.

Symptoms of Wilsons Disease

The symptoms of Wilson's disease can be neurological, psychiatric or both. Many signs can be detected only by a doctor, like swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones.

• Dystonia. Prolonged muscular contractions that may cause twisting (torsion) of body parts, repetitive movements, and increased muscular tone.
• Dysarthria. Difficulty in articulating words, sometimes accompanied by drooling.
• Dysphagia. Difficulty swallowing.
• Pseudosclerosis. Symptoms similar to multiple sclerosis.

Causes of Wilson's Disease

Many cases of Wilson's Disease occur due to spontaneous mutations in the gene. A significant number of others are simply transmitted from generation to generation. Most patients have no family history of Wilson's Disease. In Wilson's disease this process fails, causing copper to build up in the body.

Treatment for Wilsons Disease

Wilson's disease requires lifelong treatment. The disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. If the disorder is detected early and treated correctly, a person with Wilson's disease can enjoy completely normal health. A diet low in copper will also have some preventive effect. Finally, for those patients in advanced stages of liver disease, liver transplantation may be the only method of averting liver failure and death.