What Is Wilson-s Disease? Causes, Treatment And Risk Factors?

Wilson’s disease is a rare genetic disorder causing copper poisoning in the body. When liver is unable to filter out excess copper from the body through urine, it gets deposited in organs like liver, brain and eyes. A general feeling of tiredness, nausea, vomiting, loss of appetite, jaundice, edema in legs and abdomen, problem in speech, vision and imbalance in body are some notable symptoms of this disease.

Cause: Genetic mutation of the ATP7B gene responsible for copper transportation leads to Wilson’s disease.

Risk factors: Children born from parents either of them carrying this gene are at a high risk of developing Wilson’s disease. If both the parents are carriers, there is a 25% chance of their children inheriting this disease.

Treatment: Treatment is done in 3 stages and should be lifelong. The success of the treatment largely depends on the timing. Discontinuing treatment may again cause copper build-up.

Chelating Therapy where drugs like d-penicillamine and trientine are given to remove additional copper from the organs releasing it into the bloodstream.

Maintaining normal copper levels by taking zinc or tetrathiomolybdate.

Long-term maintenance of normal copper levels that include chelation and zinc therapy with continuous monitoring of copper levels.

If the above treatments do not work, the patient may have to go for a liver transplant.

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