Fabry Disease Treatment in Turkey
About Fabry Disease
Key Highlights
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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.
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Typical hospital stay:
Usually outpatient
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Expected recovery time:
Lifelong management
Frequently Asked Questions
If you are considering fabry disease in Turkey, these questions and answers can help you make a confident, informed decision.
Top-rated hospitals in Turkey with genetic medicine departments and experienced surgeons are ideal for this procedure. Use MediFyr to compare facilities, reviews, and doctor profiles before you decide.
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.
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.
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.
As a 72-year-old retired botanist with...
As a 72-year-old retired botanist with unexplained neurological decline, I was misdiagnosed for years until Dr. Grace Swarna Priya identified my rare ATXN2 gene mutation. Her personalized management plan at MIOT Hospital has slowed my progression remarkably, I can now enjoy gardening again with adapted tools.