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.