Wilson’s Disease, scientifically known as Hepatolenticular Degeneration, is an inherited disorder in which excessive amounts of copper accumulate in the body. Although Wilson’s Disease begins at birth, symptoms usually occur between the ages of 6 and 40.
Symptoms can be serious, such as liver disease, or minor, such as drooling and trembling. This paper will explain the following about Wilson’s Disease: the symptoms and consequences, treatment and diagnosis, and how it is inherited. As mentioned before, the symptoms can be very serious or minor. Liver disease, the most dangerous symptom, occurs in about 40% of patients. While nearly all patients show minor neurological and psychiatric symptoms such as tremor, rigidity, drooling, speech slurs, personality changes, inappropriate behavior, deterioration of school work, and a brownish ring in the margin of the cornea.
Wilson’s disease is easily diagnosed, but it must be done very early. Both urine and blood tests are taken from the possible patient, along with liver biopsies, to examine the possibly contaminated organ. Treatment involves removing the excess copper found in the body and preventing re-accumulation of copper. Lifelong therapy is needed to keep copper out of the body. Zinc acetate is the newest drug approved by the FDA for the treatment of Wilson’s Disease. Other drugs used for treatment and prevention are penicillamine and trientine.
In severe cases, liver transplants are needed for patients. Treatment is extremely important in Wilson’s Disease. Stopping treatment can result in the death of a patient in as little as three months. Wilson’s Disease is an inherited disease from both parents. It is not sex-linked, occurring equally in both males and females.
In order for the disease to occur, both parents must carry an affected gene, which then passes on to the affected child. The child must have two affected genes to be ill. If the child only carries one affected gene, they are known as a carrier and can pass on the disease but will not be ill. The disease affects chromosome 13 in humans and is known as ATP7B. Wilson’s Disease genes are affected by spontaneous mutations. Thirty different mutations have been found among tested patients.
The disease is known to be passed on from generation to generation in several cases, yet most patients do not show a family history of the disease. Wilson’s Disease is a serious and fatal disease if not properly treated. Treatment can get rid of the disease, but it must be lifelong to prevent the reaccumulation of copper. The disease is not easily inherited because the child must receive an affected gene from each parent. Wilson’s disease is currently being researched, and new drugs are being made to prevent and treat affected patients. Category: Science
