As part of our 28 Days, 28 Rare Diseases campaign, today we talk about Wilson Disease—a genetic condition where the body cannot get rid of extra copper.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families understand and treat Wilson Disease. With early diagnosis and proper care, people with this condition can live normal, healthy lives.
What is Wilson Disease?
Wilson Disease is a genetic disorder that causes too much copper to build up in the body, especially in the liver, brain, and other organs. The body needs small amounts of copper, but in Wilson Disease, it is not removed properly, leading to serious health problems.
Common Signs of Wilson Disease
✔ Liver problems – Jaundice (yellow skin), swelling, liver failure
✔ Brain and nerve issues – Shaking hands, trouble walking, slurred speech
✔ Mental health problems – Anxiety, depression, mood swings
✔ Kayser-Fleischer rings – Brown rings in the eyes due to copper buildup
✔ Fatigue, stiff muscles, or sudden weight loss
Symptoms usually appear between ages 5 to 35, but early treatment can prevent serious health problems.
Dr. Roshan Daniel’s Experience with Wilson Disease
In his practice, Dr. Roshan Daniel has seen patients at different ages, coming with either liver disease or nerve problems.
✅ Some children are diagnosed due to liver disease.
✅ Some adults come with shaking hands or difficulty speaking.
✅ Some people are diagnosed because of depression or mood changes.
✅ Doctors sometimes find Kayser-Fleischer rings in the eyes, which is a key sign.
💡 Cost of Testing (as of February 2025):
✔ Genetic Test (Blood Test): ₹20,000, results in 14 working days
How is Wilson Disease Diagnosed?
Doctors use different tests to check for Wilson Disease.
✔ Blood Test – Measures ceruloplasmin, a protein that carries copper.
✔ 24-Hour Urine Test – Checks if too much copper is in the urine.
✔ Eye Exam – Looks for Kayser-Fleischer rings in the eyes.
✔ Genetic Test (ATP7B gene mutation analysis) – Confirms Wilson Disease.
✔ Liver Biopsy – Checks if copper is building up in the liver.
If one family member has Wilson Disease, siblings and close relatives should be tested, even if they have no symptoms.
How is Wilson Disease Treated?
Treatment helps remove extra copper from the body and prevents damage.
🔹 Medicines to remove copper (Chelation therapy) – Drugs like Penicillamine and Trientine help flush out copper.
🔹 Zinc tablets – Stops the body from absorbing too much copper.
🔹 Copper-Restricted Diet – Avoid foods rich in copper like nuts, chocolate, shellfish, and mushrooms.
🔹 Liver Transplant (For severe cases) – Needed only if the liver is badly damaged.
💡 Before, these medicines were very costly because they were imported. Now, Indian-made versions are available at lower prices. The cost depends on the patient’s age and weight.
With lifelong medication and diet control, people with Wilson Disease can live completely normal lives.
Frequently Asked Questions (FAQs) on Wilson Disease
💡 What causes Wilson Disease?
Wilson Disease happens when a gene (ATP7B) is faulty, stopping the body from getting rid of extra copper.
💡 Is Wilson Disease inherited?
Yes. Both parents must be carriers for a child to get Wilson Disease. If both parents carry the gene, there is a 25% chance the child will have the disease.
💡 Can Wilson Disease be found before symptoms appear?
Yes. Genetic testing can detect Wilson Disease before symptoms start. Starting treatment early prevents serious damage.
✔ Genetic testing for family members is recommended.
✔ Liver and urine tests help check for early signs.
💡 Can Wilson Disease be diagnosed before birth?
Yes. If both parents are carriers, prenatal genetic testing (amniocentesis or CVS) can check if the baby has Wilson Disease.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Wilson Disease live normal lives?
Yes! With proper treatment, people with Wilson Disease can live full, healthy lives.
✔ Medications and diet keep copper levels safe.
✔ Regular check-ups prevent problems.
✔ Early treatment keeps the liver and brain healthy.
💡 Dr. Roshan Daniel has treated many patients who, with lifelong care, live completely normal lives.
💡 What happens if Wilson Disease is not treated?
Without treatment, copper builds up in the body, leading to:
✔ Liver failure – May need a liver transplant.
✔ Severe brain problems – Trouble walking, talking, and controlling movements.
✔ Mood and behavior changes – Personality changes, depression, or aggression.
💡 Starting treatment early prevents these problems.
💡 Can Wilson Disease happen again in future pregnancies?
Yes. If both parents carry the gene, each pregnancy has a 25% chance of Wilson Disease.
✔ Prenatal testing (₹35,000) can check if an unborn baby is affected.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help ensure only healthy embryos are implanted.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for Wilson Disease
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Blood and urine tests to check for Wilson Disease
✔ Genetic testing for ATP7B mutations
✔ Carrier screening for families planning a baby
✔ Personalized diet and treatment plans
✔ Online consultations for remote patients
If you or a family member has unexplained liver problems, shaking hands, or a family history of Wilson Disease, early testing can prevent serious issues.
Join Us in Spreading Awareness!
Wilson Disease is treatable, but early diagnosis is important. Spreading awareness about symptoms, testing, and treatment can help save lives.
📢 No disease is too rare to care. Join us in spreading awareness and ensuring patients get the right treatment at the right time.
For expert advice on genetic testing, counselling, or Wilson Disease care, contact Dr. Roshan Daniel at KIMSHealth today! 💙