Fabry disease

  • As per reports patients suffering from Fabry disease have not received any financial help for treatment despite availability of ₹50 lakh of financial support for treatment of all rare disease patients in National Policy for Rare Diseases 2021.

About Fabry disease

  • Fabry Disease is a rare inherited neurological disorder that occurs when enzyme alpha-galactosidase-A cannot efficiently break down fatty materials known as lipids into smaller components that provide energy to body.
  • It belongs to a group of diseases known as lysosomal storage disorders. Lysosomes function as the primary digestive tract of cells.
  • Symptoms: Heart enlargement, Progressive kidney impairment leading to renal failure, Gastrointestinal difficulties, Numbness, tingling, burning or pain in the hands or feet etc.
  • Types of Fabry disease
    • Classic type: Symptoms of this type appears during childhood or the teenage years. It may be noticeable as early as age two.
    • Late-onset/atypical type: People with late-onset Fabry disease don’t have symptoms until they’re in their 30s or older.
  • The first indication of a problem may be kidney failure or heart disease.
  • Treatment: The patients are treated by intravenously administered enzyme replacement therapy (ERT) or Oral Chaperone Therapy.
Print Friendly, PDF & Email

© 2023 Civilstap Himachal Design & Development