Fabry disease management: Current status, therapeutic challenges, and future horizons in drug delivery and artificial intelligence assisted diagnosis

Fabry disease (FD), otherwise known as Anderson-Fabry disease, is a sex-linked chromosomal disorder affecting the lysosomal storage functions of the body. Male sex is more critically affected than female sex because of its X-linked inheritance pattern, and the clinical manifestations start developing from 5 years of age. It can be diagnosed by examining the activity of α-galactosidase A (α-GAL-A), detecting globotriaosylceramide (Gb-3) in tissues, and conducting molecular-level analyses. Current treatments for FD include enzyme replacement therapy (ERT) and pharmacological chaperone therapy. The major challenges of current treatments include enzymatic degradation by proteases, lack of specificity, disruption of cell homeostasis, and generation of antibodies. Incorporating nanotechnology into medicine offers a new approach for overcoming these limitations. Nano-based carriers such as liposomes, polystyrene capsules, polymer nanoparticles, and albumin nanoparticles protect active components from external factors, improve drug internalization, and enhance targeting and specificity without compromising the properties of the drug. Artificial Intelligence (AI) and machine learning are emerging technologies used to diagnose FD. In this review, we extensively explored all the challenges associated with FD and the recent advances in treatment.