Doença de Fabry: Desafios na Compreensão de sua Fisiopatologia, Terapias Atuais e Abordagens Terapêuticas Emergentes no Manejo Clínico

• DOI: https://doi.org/10.22533/at.ed.524112505038

• Palavras-chave: “Doença de Fabry”, “terapia de reposição enzimática”, “chaperonas farmacológicas”, “terapia gênica” e “abordagens terapêuticas emergentes”.

• Keywords: “Fabry disease”, “enzyme replacement therapy”, “pharmacological chaperones”, “gene therapy” and “emerging therapeutic approaches”.

• Abstract: Fabry disease is a rare genetic disorder, inherited through the X chromosome, caused by mutations in the GLA gene, resulting in deficiency or absence of the enzyme alpha-galactosidase A (α-Gal A). This deficiency leads to the progressive accumulation of globotriaosylceramide (Gb3) within the lysosomes, causing cellular dysfunction and inflammation in multiple organs, such as the kidneys, heart and central nervous system. Clinical manifestations are varied and include neurological, cardiovascular, renal and gastrointestinal symptoms, making accurate diagnosis difficult. Currently, the main treatments available include enzyme replacement therapy (ERT) and pharmacological chaperones, which help to stabilize the mutated enzyme. However, new therapeutic approaches, such as gene therapy, inhibition of substrate synthesis and therapeutic RNA, are being studied to improve treatment efficacy and reduce the need for frequent infusions. Early diagnosis of Fabry Disease is essential to enable adequate therapeutic intervention, minimizing disease progression and providing a better quality of life for patients.