Murillo Oliveira Antunes, Rafael Ruas Nastari, Edmundo Arteaga-Fernandez, Marcelle G Henriques Lizandro, William Batah El-Feghaly, Guilherme José Dos Santos Ferreira, Alan Silva Martins, Juliana Alzira Gonzales Oliveira Leguizamon, Vinicius Machado Correia, Vagner Madrini Junior, Fábio Fernandes
{"title":"Fabry Disease and Its Different Phenotypes.","authors":"Murillo Oliveira Antunes, Rafael Ruas Nastari, Edmundo Arteaga-Fernandez, Marcelle G Henriques Lizandro, William Batah El-Feghaly, Guilherme José Dos Santos Ferreira, Alan Silva Martins, Juliana Alzira Gonzales Oliveira Leguizamon, Vinicius Machado Correia, Vagner Madrini Junior, Fábio Fernandes","doi":"10.36660/abc.20240535","DOIUrl":null,"url":null,"abstract":"<p><p>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) in tissues such as the heart, kidneys, and the nervous system. This study reports a case series of patients with FD, highlighting the phenotypic diversity of the disease, which can be confused with other cardiological conditions. When properly indicated, genetic evaluation, combined with biomarker dosage and α-galactosidase enzymatic activity, is key for an accurate diagnosis. Early diagnosis of FD is fundamental for initiating treatments that can slow disease progression and prevent serious complications, reinforcing the need for greater awareness about this condition among cardiologists.</p>","PeriodicalId":93887,"journal":{"name":"Arquivos brasileiros de cardiologia","volume":"122 2","pages":"e20240535"},"PeriodicalIF":1.9000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12017458/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos brasileiros de cardiologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36660/abc.20240535","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
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) in tissues such as the heart, kidneys, and the nervous system. This study reports a case series of patients with FD, highlighting the phenotypic diversity of the disease, which can be confused with other cardiological conditions. When properly indicated, genetic evaluation, combined with biomarker dosage and α-galactosidase enzymatic activity, is key for an accurate diagnosis. Early diagnosis of FD is fundamental for initiating treatments that can slow disease progression and prevent serious complications, reinforcing the need for greater awareness about this condition among cardiologists.
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