Fabry Disease and Its Different Phenotypes

• DOI: 10.36660/abc.20240535i
• Publication Date: 2025-03-25T18:27:55Z
• Authors: Murillo Oliveira ...; Rafael Ruas Nastari; Edmundo Arteaga-F...; Marcelle G. Henri...; William Batah El-...; Guilherme José do...; Alan Silva Martins; Juliana Alzira Go...; Vinicius Machado ...; Vagner Madrini Ju...; Fábio Fernandes

Abstract Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme α-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) tissues such as heart, kidneys, nervous system. This study reports a case series patients with FD, highlighting phenotypic diversity disease, which can be confused other cardiological conditions. When properly indicated, evaluation, combined biomarker dosage enzymatic activity, key for accurate diagnosis. Early diagnosis FD fundamental initiating treatments that slow progression prevent serious complications, reinforcing need greater awareness about this among cardiologists.