Fabry Disease Treatment in India – Best Hospitals & Doctors

Learn about Fabry Disease Treatment in India — how it works, who it is for, recovery timelines, and what to expect before and after surgery. Compare hospitals and doctors experienced in Fabry Disease and request assistance for cost estimates or appointments.

Partner Hospitals

0 partner in India for this surgery

Specialist Doctors

3 Surgeons linked to this surgery

Treatment Cost

Approx INR 200 Thousand – 5 Million

About Fabry Disease

Fabry disease is a rare, inherited genetic disorder caused by mutations in the GLA gene, leading to a deficiency of the enzyme alpha-galactosidase A. This deficiency results in the harmful buildup of a fatty substance called globotriaosylceramide (Gb3) in cells throughout the body, particularly affecting the heart, kidneys, and nervous system. Genetic medicine for Fabry disease involves a comprehensive approach, including genetic testing for diagnosis and family screening, enzyme replacement therapy (ERT) to supplement the missing enzyme, and chaperone therapy for specific mutations to stabilize the enzyme. Management also focuses on monitoring and treating organ-specific complications. Early diagnosis and intervention are crucial to slow disease progression and improve quality of life.

Key Highlights

Enables definitive diagnosis through genetic testing, identifying the specific GLA gene mutation.Offers targeted treatments like Enzyme Replacement Therapy (ERT) to address the underlying enzyme deficiency.Provides chaperone therapy (migalastat) for patients with amenable mutations to stabilize the enzyme's function.Allows for family screening and genetic counseling to identify at-risk relatives early.Focuses on personalized, lifelong management to slow disease progression and prevent organ damage.Involves a multidisciplinary care team for comprehensive monitoring of heart, kidney, and neurological health./ul

Who is this surgery for?

Presence of classic symptoms such as neuropathic pain (acroparesthesias), angiokeratomas (skin lesions), hypohidrosis (reduced sweating), and corneal verticillata (eye changes).
Unexplained kidney dysfunction (proteinuria, reduced GFR) or heart issues (left ventricular hypertrophy, arrhythmias).
Family history of Fabry disease or related complications.
For confirmatory diagnosis following a positive newborn screen or suggestive biochemical test (low enzyme activity).
To determine eligibility for specific therapies like chaperone treatment based on genetic mutation type.
For prenatal diagnosis or pre-implantation genetic testing in families with a known history.

How to prepare

Detailed clinical evaluation and review of personal and family medical history.
Collection of blood or saliva samples for genetic analysis to sequence the GLA gene.
Baseline assessments including kidney function tests, cardiac imaging (echocardiogram, ECG), and neurological exam.
Genetic counseling session to discuss the implications of testing, potential results, and impact on family members.
For ERT initiation, assessment of venous access and potential pre-medication for infusion-related reactions.
Psychological preparation and education about the chronic nature of the disease and long-term management plan.

Risks & possible complications

Infusion-related reactions (fever, chills, nausea) with Enzyme Replacement Therapy.
Development of antibodies against the replacement enzyme, potentially reducing treatment efficacy.
Progression of organ damage (kidney failure, heart disease, stroke) despite treatment.
Psychological impact of a lifelong genetic diagnosis on the patient and family.
Potential for false-negative or variant of uncertain significance (VUS) results in genetic testing.
Risks associated with invasive procedures for monitoring complications (e.g., kidney biopsy).

Recovery & hospital stay

Treatment is lifelong; there is no 'recovery' but rather ongoing disease management.
Regular infusions of ERT typically every two weeks, requiring time commitment and possible management of side effects.
Routine monitoring through blood tests, urine tests, and cardiac/renal imaging every 6-12 months.
Management of chronic pain may require medications and lifestyle adjustments.
Adherence to a heart-healthy and kidney-protective diet, often developed with a dietitian.
Continuous follow-up with a multidisciplinary team including a geneticist, nephrologist, cardiologist, and neurologist.
Support from patient advocacy groups and mental health professionals to cope with a chronic condition.

Typical hospital stay: Usually outpatient
Expected recovery time: Lifelong management

Frequently Asked Questions

If you are considering fabry disease in India, these questions and answers can help you make a confident, informed decision.

＋ − Which hospitals are best for fabry disease in India?

Top-rated hospitals in India with genetic medicine departments and experienced surgeons are ideal for this procedure. Use MediFyr to compare facilities, reviews, and doctor profiles before you decide.

＋ − How do I choose the right doctor for fabry disease?

Look at the doctor’s years of experience, hospital association, patient reviews, and how often they perform fabry disease. MediFyr helps you compare genetic medicines and book consultations online.

＋ − What factors affect the cost of fabry disease?

The overall cost depends on hospital category, surgeon’s experience, room type, implant or device used (if any), length of stay, tests, and post-operative care. Our team can help you get cost estimates from multiple hospitals before you decide.

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Procedure cost in other countries

Here is an overview of how the estimated cost, hospital stay, and recovery time for fabry disease compare across other countries where we have data.

Country	Estimated cost range	Typical stay	Recovery time	View details
India	INR 200 Thousand – 5 Million	Usually outpatient	~ Lifelong management	Know More
Turkey	TRY 700 Thousand – 17.5 Million	Usually outpatient	~ Lifelong management	Know More

PATIENT REVIEW

Anjali Johnson, a 28-year-old graphic designer,...

Anjali Johnson, a 28-year-old graphic designer, had struggled for years with unexplained symptoms. Since her teens, she experienced episodes of severe burning pain in her hands and feet, especially after exercise or in hot weather. She was often fatigued and had clusters of small, dark red spots on her skin. Doctors had previously dismissed it as anxiety or growing pains. After she developed protein in her urine during a routine check-up, her nephrologist suspected an underlying condition and referred her to a Genetic Medicine specialist. The doctor recommended genetic testing for Fabry Disease, explaining it was an inherited disorder that could explain all her seemingly unrelated symptoms. The testing itself was straightforward, a simple blood draw sent for analysis. The results confirmed she had Fabry Disease, a deficiency of the alpha-galactosidase A enzyme. Post-diagnosis, Anjali was started on enzyme replacement therapy (ERT) infusions every two weeks. The recovery from the infusions was manageable, with some initial fatigue. The outcome was life-changing; her neuropathic pain reduced significantly, her energy levels improved, and she could plan for the future with a clear understanding of her health. Emotionally, her journey shifted from years of frustration and self-doubt, feeling like a medical mystery, to profound relief and validation. While the diagnosis was daunting, having a name for her condition and a treatment plan gave her a sense of control and hope.