Fabry disease: integrative aspects from diagnosis to treatment

Abstract

Aim: identify the main aspects of Fabry disease (FD) from clinical suspicion to diagnosis, its vascular and cellular effects, in addition to treatment. Methods: This study is an integrative review of the literature supported by the search for articles in databases, Pub Med, Lilacs, Scielo, journals, and websites, with the following descriptors “Fabry disease”, “Fabry Disease treatment”, “Agalsidase-β”, “Agalsidase-α”, “Migalatast”, “inflammatory biomarkers” and “oxidative stress”, using original research articles and reviews between the years 1991 and 2023. This bibliographic survey was carried out in the period 01/10/2022 to 20/04/2023. Results: From a total of 340 articles found, 85 articles were selected. Discussion: The natural history of FD appears to be very complex, with multisystemic involvement and phenotypic variability. The analysis of FD symptoms is essential to the early diagnosis, aiming for greater success in therapy and prognosis, ensuring better patients’ quality of life and survival. Conclusion: This review addresses the diagnosis and main therapeutic approaches to guide health professionals and researchers, and to stimulate the development of research on FD.