Julio C. Velasco-Castro, Departamento de Investigación GIHORO; Departamento de Medicina Interna. Hospital Regional de la Orinoquia, Yopal, Colombia
Alwis J. Vega-Cataño, Departamento de Investigación GIHORO; Departamento de Medicina Interna. Hospital Regional de la Orinoquia, Yopal, Colombia
Gieselle J. Fragozo-Plata, Departamento de Investigación GIHORO; Departamento de Medicina Interna. Hospital Regional de la Orinoquia, Yopal, Colombia
Fredy A. Ramírez-Jara, Departamento de Investigación GIHORO; Departamento de Medicina Interna. Hospital Regional de la Orinoquia, Yopal, Colombia
Cristian F. Carrillo-Pinzón, Departamento de Investigación GIHORO; Departamento de Medicina Interna. Hospital Regional de la Orinoquia, Yopal, Colombia
Lorena García-Agudelo, Departamento de Investigación, Hospital Regional de la Orinoquía, Yopal, Colombia
This report describes a case of non-classical Fabry disease in a 49-year-old man who consulted with multiple cardiovascular manifestations, mainly unexplained left ventricular hypertrophy, and kidney disease, with reduced alpha-galactosidase A activity. The importance of a thorough clinical evaluation is emphasized, considering the wide variety of pathologies that can mask the disease and delay its timely diagnosis. This case is clinically relevant due to its low prevalence and the presentation of a nonclassical variant of the disease.
Keywords: Fabry disease. Alpha-galactosidase A. Kidney disease. Left ventricular hypertrophy.