Fabry disease
Fabry Disease in India: A Comprehensive Overview
Fabry disease is a rare genetic disorder that affects both men and women. It‘s caused by a mutation in the GLA gene, leading to a deficiency of the alpha-galactosidase A enzyme. This deficiency causes a buildup of a fatty substance called globotriaosylceramide (Gb3) in cells throughout the body, resulting in a wide range of symptoms.
Recognizing the Symptoms of Fabry Disease
The symptoms of Fabry disease can vary greatly from person to person and often develop gradually over time. Some common signs and symptoms include:
- Burning or tingling pain: Often in the hands and feet, worsening with heat or exercise.
- Reduced sweating (hypohidrosis) or inability to sweat (anhidrosis): Can lead to heat intolerance.
- Gastrointestinal issues: Nausea, vomiting, diarrhea, abdominal pain.
- Skin rashes (angiokeratomas): Small, dark red spots that often appear on the lower body.
- Eye problems: Cloudiness in the cornea (the front part of the eye).
- Kidney problems: Protein in the urine, kidney failure.
- Heart problems: Enlarged heart, irregular heartbeat, heart failure.
- Nervous system problems: Dizziness, ringing in the ears, stroke.
Diagnosis and Genetic Testing in India
Diagnosis of Fabry disease typically involves a combination of:
- Clinical evaluation: A thorough medical history and physical exam to identify characteristic symptoms.
- Enzyme activity testing: Measuring the levels of alpha-galactosidase A in the blood.
- Genetic testing: Identifying the specific GLA gene mutation.
In India, several genetic testing centers offer comprehensive diagnostic services for Fabry disease, including:
- Mapmygenome: Offers a range of genetic tests, including those for Fabry disease, with expert genetic counseling.
- Centre for Cellular and Molecular Biology (CCMB): A renowned research institution that also offers genetic testing services, including those for rare diseases.
- Centre for DNA Fingerprinting and Diagnostics (CDFD): A government-run institution that offers genetic testing and counseling services.
Treatment and Management Options in India
Enzyme replacement therapy (ERT) is the primary treatment for Fabry disease. It involves regular infusions of the missing enzyme (alpha-galactosidase A) to help break down the accumulated Gb3. Other medications may be used to manage specific symptoms, such as pain or kidney problems.
Some hospitals in India that specialize in the treatment of Fabry disease and other lysosomal storage disorders include:
- All India Institute of Medical Sciences (AIIMS), New Delhi
Support and Resources for Fabry Patients in India
Living with Fabry disease can be challenging, but there are resources available:
- Lysosomal Storage Disorders Support Society (LSDSS), India: A valuable source of information and support for individuals and families affected by lysosomal storage disorders, including Fabry disease.
- Organization for Rare Diseases India (ORDI): Provides advocacy and support for rare disease patients and their families.
The Importance of Early Diagnosis and Treatment
Early diagnosis and prompt treatment with ERT can significantly improve the quality of life for individuals with Fabry disease and prevent serious complications. If you experience any symptoms suggestive of Fabry disease or have a family history of the disorder, it‘s important to seek medical evaluation and genetic counseling.
