Rare genetic diseases in Brazil: diagnosis and follow-up of Fabry - a literature review

Abstract

Fabry disease is part of the group of diseases related to inborn errors of metabolism, caused by a genetic mutation linked to the X chromosome that affects the production of the alpha-galactosidase enzyme at different levels. Mutations can be degenerative and chronically debilitating, affecting the physical, mental, sensory and behavioral capabilities of the individual. The early diagnosis of these diseases allows care to be directed to the specificity of each individual based on the manifestations. This bibliographic review aimed to report on Fabry Disease and its updates in Brazilian territory, in order to demonstrate the relevance of knowledge of the pathology for the population. A total of 44 works published between 2013 and 2023 in databases such as BVS, Scielo, PubMed and Google Scholar were analyzed. The classic mutations of Fabry disease are seen mostly in men, as they are heterozygous. Confirmation can take place through biochemical and/or genetic tests, allowing due attention to be given to the signs and symptoms manifested and the design of the therapeutic approach for clinical control and better quality of life, since there is still no cure for the pathology.