Fabry Disease and Its Different Phenotypes
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.
Authors
- Fábio Danziato Fernandes (ORCID: https://orcid.org/0000-0002-9323-8805)
- Vinicius Machado Correia
- Guilherme José dos Santos Ferreira
- Vagner Madrini (ORCID: https://orcid.org/0000-0002-1116-6554)
- Murillo de Oliveira Antunes (ORCID: https://orcid.org/0000-0001-8071-924X)
- Edmundo Arteaga-Fernández (ORCID: https://orcid.org/0000-0003-3600-4022)
- Alan Silva Martins
- Juliana Alzira Gonzales Oliveira Leguizamon (ORCID: https://orcid.org/0009-0003-0979-0168)
- Rafael Ruas Nastari (ORCID: https://orcid.org/0009-0006-0241-5535)
- Marcelle G. Henriques Lizandro
- William Batah El-Feghaly
Institutions
- Universidade de São Paulo (BR)
- Universidade Brasil (BR)
- Universidade São Francisco (BR)
Publication Details
- Journal
- Arquivos Brasileiros de Cardiologia
- Published
- 2025-01-01
- DOI
- https://doi.org/10.36660/abc.20240535i
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00