As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Gaucher Disease—a genetic disorder where the body cannot properly break down certain fats (lipids), leading to their buildup in organs like the liver, spleen, and bone marrow.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many families diagnose and manage Gaucher Disease. With early detection and the right treatment, people with this condition can live healthy, active lives.
What is Gaucher Disease?
Gaucher Disease happens when the body lacks an enzyme called glucocerebrosidase, which is needed to break down certain fats. When these fats don’t break down properly, they build up inside cells, leading to problems in different organs.
Common Signs of Gaucher Disease:
✔ Enlarged liver and spleen – Causes belly swelling
✔ Weak bones – Increased risk of fractures and bone pain
✔ Fatigue and low energy – Due to anemia (low blood levels)
✔ Easy bruising and bleeding – Because of low platelets
✔ Delayed growth in children
Symptoms can appear at any age. Some people have mild symptoms, while others have severe health problems.
Dr. Roshan Daniel’s Experience with Gaucher Disease
In practice, Dr. Roshan Daniel has seen patients of different ages coming with varied symptoms.
✅ Some are diagnosed in childhood due to enlarged spleen or bone pain.
✅ Some adults are diagnosed after years of unexplained fatigue and easy bruising.
✅ In some cases, a simple blood test helps detect the disease early.
✅ Early treatment has helped many patients live active, healthy lives.
💡 Cost of Testing (as of February 2025):
✔ Enzyme Test (to check glucocerebrosidase levels): ₹5,000 – ₹10,000
✔ Genetic Test (Blood Test): ₹20,000, results in 14 working days
How is Gaucher Disease Diagnosed?
Doctors use different tests to confirm Gaucher Disease.
✔ Enzyme Test – Measures the missing enzyme in the blood.
✔ Genetic Test – Identifies mutations in the GBA gene.
✔ MRI or Ultrasound – Checks for enlarged liver and spleen.
✔ Bone Density Scan – Looks for bone weakness.
If one family member has Gaucher Disease, siblings and close relatives should be tested, even if they have no symptoms.
How is Gaucher Disease Treated?
There is no permanent cure, but treatment helps prevent complications.
🔹 Enzyme Replacement Therapy (ERT) – Gives the missing enzyme through injections, preventing symptoms.
🔹 Substrate Reduction Therapy (SRT) – Reduces fat buildup in cells.
🔹 Bone Care – Medicines help prevent bone fractures and pain.
🔹 Blood Transfusions (if needed) – Helps with anemia and low platelets.
💡 Before, these treatments were very expensive because they were imported. Now, Indian-made versions are available, making treatment more affordable. The cost depends on the patient’s age and weight.
With lifelong treatment, most people with Gaucher Disease can live normal, healthy lives. Now the National Rare DIsease Policy has been implemented by the Government, through which financial help is available for those affected.
Frequently Asked Questions (FAQs) on Gaucher Disease
💡 What causes Gaucher Disease?
Gaucher Disease happens when a gene (GBA) is faulty, stopping the body from breaking down certain fats. These fats then build up in organs and bones, causing problems.
💡 Is Gaucher Disease inherited?
Yes. Both parents must be carriers for a child to inherit Gaucher Disease. If both parents carry the gene, there is a 25% chance the child will have it.
💡 Can Gaucher Disease be found before symptoms appear?
Yes. Genetic testing can detect the disease before symptoms start. Starting treatment early helps prevent serious damage.
✔ Genetic testing for family members is recommended.
✔ Enzyme tests help check for early signs.
💡 Can Gaucher Disease be diagnosed before birth?
Yes. If both parents are carriers, prenatal genetic testing (amniocentesis or CVS) can check if the baby has Gaucher Disease.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Gaucher Disease live normal lives?
Yes! With the right treatment, people with Gaucher Disease can live full, healthy lives.
✔ Regular enzyme therapy keeps symptoms under control.
✔ Bone care and healthy diet help prevent complications.
✔ If treated early, most people live normal lives.
💡 Dr. Roshan Daniel has treated many patients who, with lifelong care, live completely normal lives.
💡 What happens if Gaucher Disease is not treated?
Without treatment, fats keep building up in the body, leading to:
✔ Liver and spleen damage – Causes severe swelling.
✔ Weak bones – Increases risk of fractures and bone pain.
✔ Severe anemia – Leads to extreme fatigue and weakness.
💡 Starting treatment early prevents these problems.
💡 Can Gaucher Disease happen in future pregnancies?
Yes. If both parents carry the gene, each pregnancy has a 25% chance of Gaucher 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 Gaucher Disease
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Blood and enzyme tests to check for Gaucher Disease
✔ Genetic testing for GBA mutations
✔ Carrier screening for families planning a baby
✔ Personalized treatment and bone care plans
✔ Online consultations for remote patients
If you or a family member has unexplained liver swelling, bone pain, or a family history of Gaucher Disease, early testing can prevent serious issues.
Join Us in Spreading Awareness!
Gaucher 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 Gaucher Disease care, contact Dr. Roshan Daniel at KIMSHealth today! 💙