Fabry Disease: Revisiting a Rare Disorder with Modern Therapies

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient α-galactosidase A activity, leading to the accumulation of globotriaosylceramide (Gb3) in various tissues. This results in progressive, multisystem involvement, including renal, cardiac, and neurological complications. Symptoms often begin in childhood and worsen with age, significantly impacting quality of life. Diagnosis relies on enzyme assays, biomarker analysis, and genetic testing, though early recognition remains challenging. Enzyme replacement therapy (ERT) has been the foundation of treatment, although it has disadvantages such as insufficient efficacy and infusion burden. Recent advances have brought promising options, including as gene therapy, pharmacological chaperones, substrate reduction treatment, and CRISPR/Cas-based gene editing. These approaches seek to improve long-term outcomes by offering more targeted, long-lasting therapy alternatives. This review outlines our current understanding of FD, focusing on its pathogenesis, clinical symptoms, diagnostic techniques, and novel medicines that are altering its care.