Wilsons Disease

Topics: Wilson's disease, Copper, Cirrhosis Pages: 7 (1865 words) Published: March 16, 2000

Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects one in thirty thousand people world wide. The genetic defect causes excessive copper accumulation. Small amounts of copper are essential as vitamins. Copper is present in most foods, and most people get much more than they need. Healthy people excrete copper they don't need, but Wilson's Disease patients cannot.

Copper begins to accumulate immediately after birth. Excess copper attacks the liver and brain resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood and abdominal pain. They may have tremors, difficulty walking, talking and swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression and aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how the disease begins, it is always fatal, if is not diagnosed and treated. The first part of the body that copper affects is the liver. In about half of Wilson's Disease patients, the liver is the only affected organ. The physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson's Disease hepatitis. Any unexplained abnormal liver test should trigger thought about Wilson's Disease.

How is Wilson's Disease Diagnosed?

The diagnosis of Wilson's Disease is made by relatively simple tests which almost always make the diagnosis. The tests can diagnose the disease in both symptomatic patients and people who show not signs of the disease. It is important to diagnose Wilson's Disease as early as possible, since severe liver damage can occur before there are any signs of the disease. Individuals with Wilson's Disease may falsely appear in excellent health. Blood, ceruloplasmin, urine copper, eye test for Kayser-Fleischer rings, and liver biopsies are used to make the diagnosis.

Is Wilson's Disease an Inherited Disorder?

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. Two abnormal genes are required to have the disease. The responsible gene is located at a precisely known site on chromosome 13. The gene is call ATP7B.

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. People with only one abnormal gene are called carriers. They do not become ill and should not be treated. More than thirty different mutations have been identified thus far. Therefore, it has been difficult to devise a simple genetic screening test for the disease. However, in a particular family, if the precise mutation is identified, a genetic diagnosis is possible. This may help in finding symptom-free relatives so that they may be treated before they become ill or handicapped. Someday a genetic test may help in prenatal diagnosis.

How is Wilson's Disease Being Treated?

Wilson's Disease is a very treatable condition. With proper therapy, disease progress can be halted and often times symptoms can be improved. Treatment is aimed at...
Continue Reading

Please join StudyMode to read the full document

You May Also Find These Documents Helpful

  • Wilsons disease Essay
  • Huntingtons Disease Essay
  • Essay on Communicable Disease
  • Obesity is not a Disease Essay
  • Huntingtons Disease Essay
  • Huntington Disease Essay
  • Huntington's Disease Media Critique Essay
  • infectious Diseases Essay

Become a StudyMode Member

Sign Up - It's Free