Fabry Disease: An Update Based on Evidence and Experience

Abstract Fabry disease is an X-linked genetic disorder caused by GLA gene variants, resulting in a lysosomal enzyme deficiency of the acid hydrolase α-galactosidase A, with a progressive accumulation of globotriaosylceramide that mainly affects the cardiovascular, renal, and nervous systems. In September 2023, a local group of physicians, experts in Fabry disease patient management, convened in a face-to-face meeting to discuss and review some controversial aspects, based on their experience and the updated literature. This study aims to report the results of the review. A non-exhaustive literature search was conducted using the Embase and PubMed databases. The review highlighted that early initiation of treatment in children with “classic” forms has been associated with better outcomes, based on the reduction in biomarkers, improvement in symptoms, and stabilization of renal and cardiovascular function. Although the dose of enzyme replacement therapy has been a controversial issue, the personal experience of the authors, long-term data, and new therapeutic guidelines suggest that a dose of 1 mg/kg every other week should be considered the first-line treatment for males with the “classic” phenotype.