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Wilson disease is categorized as one of the genetic disorders identified by the medical industry. This disorder averts the evacuation of extra copper out from the body. It is said that small amount of copper obtained by the body is considered to be healthful, but excessive amount of copper present in the body may prove to be poisonous. In this physical condition organs such as brain, liver or eyes etc. experiences excessive buildup of copper. Gradually through the course of time this accumulation of copper causes increments in level of copper in the body and may prove to be life threatening condition causing damages to organ.

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People who are prone to Wilson disease

ilson disease is an inherited disorder that may affect people who have this trait in their bloodline. The condition may occur if the child inherits two copies of abnormal; ATP7B gene one copy from each parent. This condition may be benign if the carrier of this disease has only one abnormal ATP7B gene. Most people with Wilson disease may not have family history of affliction. The chances of a person to have this disease are higher when both of the parents are the carrier of defected ATP7B gene.

The condition is less common among people as only one out of forty thousand people may have this inherited caudation. The symptoms of Wilson disease is usually experienced between the age group of five years to thirty five years. However, recently it is seen that the symptoms may also be experienced by people ageing between 2 to 72 years.

Causes of Wilson disease:

The chief cause of Wilson disease, as mentioned above, is built up of excessive copper. In normal case, the copper absorbed by the body is filtered out through bile from the liver to intestine which then eventually is evacuated out of the body. Hence, when a person is afflicted by Wilson disease the copper is not properly evacuated from the liver through the bile. This happens due to changes in ATP7B gene. When the capacity of liver for storing copper is transcended, the copper content is then dispensed into the blood stream which then reached to other organs such as brain, heart, kidney etc.

Wilson disease symptoms:

Wilson disease has its influence on the liver and/ or the central nervous system initially. The excessive accumulation of copper in the liver leads to possible liver disease and worsens ongoing diseases related to liver. In rare cases even acute liver failure may occur in individuals with Wilson disease. Some of the common symptoms experienced with chronic liver issue may include:

• Swelling or liver or engorgement of spleen

• Jaundice or paled skin

• Paled eyes

• Build up of fluid in stomach or leg

• Easy bruises

• Tiredness or fatigue

Affected individuals may also experience some neurological symptoms due to copper built up in central nervous system, these neurological symptoms may include:

• Speech related issues

• Problem while imbibing

• Difficulties related to physical coordination

• Uncontrollable movement or shudders

• Stiffness of muscles

• Changes in behavior of the individual

There are also some other symptoms experienced by Wilson disease patients that may include:

• Anemia

• Low level of WBC or white blood cell

• Gradual nondescript blood clotting which is determined by blood test

• Increased level of amino acid in urine

• Increment in uric acid, protein and carbohydrate in urine

• Premature arthritis as well as osteoporosis

Wilson disease treatment and medicines:

If you have been diagnosed positive for Wilson disease you doctor may suggests you medicines to reduce the level of copper built up in your body. Once the level of copper in your liver is reduced significantly to normal level then the doctor may focus on preventing copper from accumulating again. However, in some cases wherein the damages to the liver are severe, then it may become necessary to transplant the liver.

Medicines to remove surplus copper from body:

Chelating agent serves as a medication that tells you organ to secret the copper into blood stream. The copper relapsed into the blood is then filtered by the kidneys and then evacuated out through the urine.

The treatment for people with prevalence of Wilson disease often starts with chelating agent. Once the symptom experienced by the affected individuals is alleviated, your doctor may reduce the dosage of chelating agent to ensure that the level of copper is maintained in the body. In some cases this medicine is also suggested to people who have been diagnosed with Wilson disease but symptoms are absent. For such individuals the medicine will help by reduces chances of liver damages.

There are some side effects noticed on taking certain medications. For example Penicillamine may lead to severe side effects such as skin issues, suppression of bone marrow, occurrence or progression of neurological symptoms etc. Trientine works similar to penicillamine but has shown comparatively lesser side effects. These side effects may include worsening of neurological symptoms etc.

Maintaining health count of copper in body through medicines such as zinc acetate is suggested by your doctor. This medicine averts your body form absorbing copper from the food that you eat. Zinc is also suggested for people who underwent successful chelating agent treatment. It is also used in people who have nondescript Wilson disease.

Liver transplant – treatment for Wilson disease:

Incase of people with severe liver damages due to Wilson disease or other conditions, when other treatments do not work, liver transplant is the last resort. Liver transplant is an invasive medical procedure wherein through a surgical procedure that surgeon replaces your damaged liver with a new healthy liver donated by a donor who s deceased. The donor can also be a family member.

Wilson disease is a serious condition and should be initially diagnosed if any of the symptoms is experienced. Since it is a genetic condition chances of prevention is less. However, treating it timely may help in avoid further health issues that may arise due to Wilson disease.

 

 

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