The Treatment Progress of Fabry Disease

Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by variants in the GLA gene, which encodes α-galactosidase A (α-Gal A). These mutations lead to reduced or absent α-Gal A activity, resulting in the accumulation of its substrates in various organs and tissues. This accumulation causes multi-system damage and can be life-threatening. This article reviews the current landscape of various treatment strategies for FD, including specific therapies (such as enzyme replacement therapy, chaperone therapy, substrate reduction therapy, and gene therapy), symptomatic management, as well as dietary and exercise interventions, aiming to provide a reference for the clinical management of FD.