The cover of 'Rare Disease Series #1 FABRY DISEASE'

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

Eight symptoms of Fabry disease: Cloudy vision, sweating less than normal, skin rashes, hearing loss, digestive problems, heart attack, kidney failure, and burning feeling in the hands and feet

Inheritance Pattern

Two family trees showing the X-linked inheritance pattern of hemophilia in each case of parents affected.

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

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