Today, we are talking about Fabry Disease—a rare genetic condition that affects how the body breaks down certain fats. Over time, these fats build up and damage the skin, nerves, heart, kidneys, and other organs.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s top genetic experts, has helped many families understand and treat Fabry Disease. Early diagnosis and the right care can prevent serious health problems and improve quality of life.
What is Fabry Disease?
Fabry Disease is caused by a problem (mutation) in the GLA gene. This gene makes an enzyme called alpha-galactosidase A (alpha-GAL).
In Fabry Disease:
•The body makes little or no alpha-GAL enzyme.
•Without this enzyme, fats (called GL-3) build up in the body’s cells.
•Over time, this buildup damages the heart, kidneys, nerves, and skin.
💡 Symptoms can start in childhood or adulthood, depending on the type of Fabry Disease.
Types of Fabry Disease
1. Classic Fabry Disease
•Starts in childhood or teenage years.
•Symptoms are more severe and can lead to organ damage if untreated.
2. Late-Onset Fabry Disease
•Symptoms start later in life (after 30).
•Mostly affects the heart and kidneys.
Common Symptoms of Fabry Disease
Symptoms can be mild in some people and severe in others. It depends on how much enzyme the body makes.
Early Symptoms:
✔ Burning or tingling pain in the hands and feet (especially after exercise or heat)
✔ Sweating less or not at all
✔ Heat and cold intolerance
✔ Red or dark spots on the skin (angiokeratomas)
✔ Stomach problems (diarrhea, constipation, or pain)
Later Symptoms:
✔ Kidney problems (protein in urine, swelling, poor kidney function)
✔ Heart problems (irregular heartbeat, chest pain, enlarged heart)
✔ Hearing loss or ringing in the ears (tinnitus)
✔ Stroke at a young age
✔ Dizziness and balance problems
💡 Symptoms often get worse over time if not treated.
Dr. Roshan Daniel’s Experience with Fabry Disease
In his practice, Dr. Roshan Daniel has seen many cases of Fabry Disease:
✅ Burning Pain – Many patients first come in complaining about burning pain in their hands and feet.
✅ Skin Spots – Small, dark red spots (angiokeratomas) are often the first sign doctors notice.
✅ Kidney and Heart Issues – Some patients are diagnosed after developing kidney failure or heart problems.
✅ Family History – In some cases, a diagnosis in one person leads to testing other family members, and Fabry Disease is found in them too.
✅ Different Symptoms in Women – Women with Fabry Disease often have milder symptoms, but they can still have heart and kidney issues later in life.
💡 Early diagnosis and starting treatment early can prevent serious damage.
How is Fabry Disease Diagnosed?
Doctors use a combination of tests to confirm Fabry Disease.
Diagnosis Steps:
✔ Enzyme Test – A simple blood test to measure alpha-GAL enzyme levels. Low levels suggest Fabry Disease.
✔ Genetic Test – Confirms the diagnosis by checking for changes in the GLA gene.
✔ Urine Test – Checks for protein or other signs of kidney damage.
✔ Heart Test (ECHO, ECG) – Checks for heart problems like thickened heart walls or irregular heartbeats.
✔ Skin Biopsy – Sometimes used to confirm fat buildup in skin cells.
💡 Cost of Testing (as of February 2025):
✔ Enzyme Test: ₹5,000 – ₹10,000
✔ Genetic Test: ₹15,000 – ₹25,000
✔ Results usually take 2–3 weeks.
How is Fabry Disease Treated?
There is no cure for Fabry Disease, but treatments can help manage symptoms and prevent organ damage.
1. Enzyme Replacement Therapy (ERT)
•This is the main treatment for Fabry Disease.
•The missing enzyme (alpha-GAL) is replaced through regular IV infusions.
•Helps reduce pain, protect the heart and kidneys, and improve overall health.
•ERT is expensive, but under the Rare Disease Policy, some government schemes can cover the cost, making it free for patients.
💡 Patients treated with ERT usually show good improvement.
2. Chaperone Therapy
•Used in milder cases where the enzyme is slightly active.
•Medication helps the enzyme work better.
3. Pain Management
•Medications help relieve burning or tingling pain in the hands and feet.
•Lifestyle changes like avoiding heat and strenuous exercise also help.
4. Kidney and Heart Care
•Medications to control blood pressure and protect kidney function.
•Heart medications for irregular heartbeat or enlarged heart.
5. Stroke Prevention
•Blood thinners to reduce the risk of stroke or heart attack.
💡 With proper treatment, most people with Fabry Disease can live full, active lives.
FAQs on Fabry Disease
💡 What causes Fabry Disease?
Fabry Disease is caused by a change (mutation) in the GLA gene. This mutation stops the body from making enough of the enzyme needed to break down fats.
💡 Is Fabry Disease inherited?
Yes. Fabry Disease is inherited from a parent.
•If the mother has it, 50% of her children (both boys and girls) can inherit it.
•If the father has it, only his daughters will inherit the condition.
💡 Can Fabry Disease be diagnosed before symptoms appear?
Yes. Genetic testing can confirm Fabry Disease even before symptoms start.
✔ Family members of an affected person should consider genetic testing.
✔ Early diagnosis allows for better treatment and symptom control.
💡 Can Fabry Disease be diagnosed before birth?
Yes. If a parent has Fabry Disease, prenatal testing (amniocentesis or CVS) can check if the baby has inherited the condition.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Fabry Disease live normal lives?
Yes! With proper treatment, most people with Fabry Disease can live full and active lives.
✔ Enzyme replacement therapy protects the heart and kidneys.
✔ Pain medications improve comfort and quality of life.
✔ Early diagnosis helps prevent severe complications.
💡 What happens if Fabry Disease is not treated?
Without treatment, Fabry Disease can lead to:
✔ Kidney failure requiring dialysis or transplant
✔ Severe heart disease and irregular heartbeat
✔ Stroke at a young age
✔ Early death due to organ failure
💡 Starting treatment early can prevent these problems.
💡 Can Fabry Disease happen in future pregnancies?
Yes. If the mother carries the gene, there is a 50% chance the baby will inherit the disease.
✔ Prenatal testing (₹35,000) can confirm if the baby has Fabry Disease.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help avoid passing the condition to the baby.
💡 Dr. Roshan Daniel has helped many families plan safe pregnancies through genetic counselling.
Genetic Testing and Counselling for Fabry Disease
At KIMSHealth, Trivandrum, under the leadership of Dr. Roshan Daniel, we offer:
✔ Enzyme and genetic tests for Fabry Disease
✔ Free access to ERT under government schemes
✔ Family screening and genetic counselling
✔ Heart and kidney monitoring for Fabry patients
✔ Online consultations for remote patients
If you or a family member have burning pain, kidney issues, or heart problems, early testing can help prevent serious complications.
Join Us in Spreading Awareness!
Fabry Disease can be managed with early diagnosis and proper care. Spreading awareness about symptoms, genetic testing, and treatment can help families live healthier lives.
📢 No disease is too rare to care. Contact Dr. Roshan Daniel at KIMSHealth today for expert advice on genetic testing, counselling, and Fabry Disease care! 💙