How is Fabry disease treated?

Fabry disease is not a curable condition but can be managed by different approaches including disease-specific therapies such as enzyme replacement therapy (ERT) and pharmacological chaperone therapy. Additional therapies may be given for symptomatic relief based on symptoms and organs affected1.

Current Available Therapies

  • Enzyme Replacement Therapy (ERT) was first introduced in Europe in 2001 to treat Fabry disease. It provides an exogenous source of α-galactosidase A (α-GalA) that replaces the deficient enzyme in the cells, helping to slow disease progression2.
  • Pharmacological chaperone therapy was introduced in Europe in 2016 and is an oral approach to managing Fabry disease. The molecular pharmacological chaperones bind specifically to a defective α-GalA and stabilize it3,4,5.
  • Other treatment interventions like pain killers, anti-hypertensives, dialysis, antiarrhythmics, diuretics, pacemakers etc. may be used while managing the complications of Fabry disease6.

Please contact your doctor to understand what treatment options are available.