FABRY DISEASE: A NARRATIVE LITERATURE REVIEW

Abstract

This article aimed to investigate the most recent diagnostic and therapeutic approaches for Fabry Disease (FD), a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in various organs. The methodology included a narrative literature review, selecting 8 relevant articles published between 2019 and 2024, based on inclusion criteria covering articles in English, Portuguese, and Spanish, freely available on PubMed. The research focused on diagnostic biomarkers, such as GL3 and lyso-GL3, and the main therapies, including enzyme replacement therapy (ERT), chaperone therapy, and advances in gene therapy. The results indicate that, although ERT is the standard treatment, it faces significant limitations, especially in advanced stages of the disease with irreversible fibrosis. Gene therapy emerges as a promising solution but is still in the early stages of development. The conclusion reinforces the need for earlier diagnoses, personalized interventions, and clinical trials that combine multiple therapeutic approaches to optimize clinical outcomes and improve the quality of life for patients with FD.