Frequently Asked Questions
Wilson’s Disease is a rare genetic disorder that causes excessive copper buildup in the liver, brain, and other organs due to a mutation in the ATP7B gene.
It is caused by an inherited mutation in the ATP7B gene that prevents the body from properly eliminating excess copper.
Symptoms include fatigue, jaundice, tremors, difficulty speaking or swallowing, mood changes, and liver failure. Kayser-Fleischer rings in the eyes are a classic sign.
Diagnosis involves blood and urine tests for copper levels, liver function tests, genetic testing, and eye examination for Kayser-Fleischer rings.
Treatment includes copper-chelating medications (like penicillamine or trientine), zinc therapy to block copper absorption, and liver transplant in severe cases.
Wilson’s Disease is not curable, but with early diagnosis and lifelong treatment, symptoms can be controlled, and progression can be halted.
Zinc interferes with copper absorption in the intestine and helps maintain low copper levels in the body.
Liver transplantation is considered in cases of acute liver failure or end-stage liver disease unresponsive to medical therapy.
Yes, a copper-restricted diet avoiding foods like shellfish, nuts, chocolate, and liver can help reduce copper intake.
Yes, it is an autosomal recessive inherited disorder, meaning a person must inherit two defective genes (one from each parent) to develop the disease.
Yes, symptoms can appear in children, typically between ages 5 and 35, and early screening is important in families with known cases.
Patients on treatment should have copper and liver function tests monitored every 3–6 months or as advised by their specialist.
With lifelong treatment and regular follow-up, many patients can lead a normal or near-normal life.
Yes, side effects can include nausea, joint pain, rash, and in some cases, worsening of neurological symptoms if not managed properly.
Yes, copper accumulation in the brain can lead to neurological and psychiatric symptoms such as tremors, poor coordination, depression, and personality changes.