About Fabry Disease

Fabry disease is a rare genetic disorder caused by a defective GLA gene, which usually causes a deficiency of enzyme alpha-galactosidase A.

Fabry disease affects between 1 and 5 in 10,000 people worldwide. Its symptoms usually appear in childhood.

Fabry disease is inherited by an X-linked pattern. Men are known to have more severe symptoms than women.

Symptoms

Inheritance Pattern

Treatments

Enzyme Replacement Therapy (ERT)

  • Agalsidase beta (Fabrazyme┬« - FDA approved) produced by Sanofi-Genzyme
  • Agalsidase alfa (Replagal┬«) produced by Shire

Oral Chaperone Therapy (OCT)

  • Migalastat (GalafoldTM - FDA approved) produced by Amicus Therapeutics

Other methods include:

  • A plant-based ERT (Protalix)
  • Substrate reduction therapies (SRT) offered by Sanofi-Genzyme and Idorsia
  • Gene therapy solutions offered by Avrobio and Sangamo

Living with Fabry Disease

Care for Yourself

  • Stress from continued symptoms and medical treatments can both wear down your mind and body
  • Talking to someone can help you a lot; consider speaking with a doctor to acquire a referral for a counselor or therapist

Stay Hydrated

  • Drinking lots of fluids to stay hydrated will help maintain your body temperature
  • By maintaining body temperature, possibility of pain episodes are reduced

References