Question

In Detail About Wilson's Disease!

Dr.Goutham Kumar · Accepted Answer

Wilson s Disease is a rare genetic disorder, affecting one in 30,000 individuals, which leads to an accumulation of copper in different organs of the body, especially in brain, liver, and eyes. Copper is an important mineral that plays an important role in the development of collagen, bones, skin, and nerves. The amount of copper required by the body is obtained from food. In general, excess copper is excreted out with the help of bile juice from the liver. But, in Wilson s Disease, copper from the body is not properly eliminated that leads to its accumulation up to non-permissible limits inside the body.

This condition is caused due to gene mutation and is often fatal if not recognized and treated on time, in its early stage itself. This condition has the potential to damage organs and hence is life-threatening.

Symptoms-
While Wilson s Disease is present at the time of birth itself, symptoms do not really manifest until its accumulation in different organs of the body. The common symptoms of the Wilson s Disease include jaundice, lack of appetite, fatigue, abdominal pain, discoloration of the eye (golden brown color), buildup of fluid in abdomen and legs, muscular stiffness, uncontrolled movements of the body, tremors, anxiety, and problems related to speech, physical coordination, and swallowing.

Diagnosis-
Wilson s Disease is difficult to diagnose and often involves physical examination, eye examination, urine tests, blood tests, liver biopsy, and genetic testing.

Treatment-
Treatment of Wilson s Disease involves lifelong management and medication. Food rich in copper like liver, shellfish, nuts, mushrooms, chocolate, etc. must be avoided, and so must be copper utensils and cookware. Zinc supplements, trientine, and d-penicillamine are often used as medications. For a failed organ like the liver, the transplant might be recommended.

Risk Factors-
If one of the family members, especially in close blood relations, is suffering from this condition, it increases the chances of the occurrence of this disease.

Complications-
If left untreated, Wilson s Disease can be fatal with a number of serious complications such as:

Failure or scarring of the liver or cirrhosis leads to its difficult and reduced function. It might require a liver transplant in case of acute failure.
Neurological conditions like tremors, muscular stiffness and uncontrolled movements, and difficulty in speech often improve upon a treatment, but the same might be persistent in certain cases.
Poor or reduced function of kidneys due to stones, or partial or total failure.
Psychological issues like anxiety, irritability, psychosis or bipolar disorder might also happen.
Hemolysis or destruction of the red blood cells leads to jaundice and anemia.

Take Away-
Wilson s Disease is a life-threating genetic disorder caused by the collection of copper in different organs of the body and damaging them. It is difficult to diagnose and has a number of serious complications. Since it is a genetic disorder, the chances of an individual suffering from this condition increase in his/her close blood relation.

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