Ezequiel Lerech, Servicio de Cardiología, Área de Lípidos, Hospital El Cruce, Buenos Aires, Argentina
Pablo Corral, Departamento de Farmacología e Investigación, Instituto de Investigaciones Clínicas, Universidad FASTA, Mar del Plata, Argentina
Ana L. Damia, Área de Genómica, Centro de Medicina Traslacional, Hospital El Cruce, Buenos Aires, Argentina
Eduardo Esteban, Servicio de Cardiología, Área de Lípidos, Hospital El Cruce, Buenos Aires, Argentina
Daniel Aimone, Servicio de Cardiología, Área de Lípidos, Hospital El Cruce, Buenos Aires, Argentina
Carolina Ramírez, Área de Genómica, Centro de Medicina Traslacional, Hospital El Cruce, Buenos Aires, Argentina
Marcelo Demozzi, Servicio de Cardiología, Hospital Municipal de Daireaux Pedro Mario Romanazzi, Buenos Aires, Argentina
Familial hypercholesterolemia (FH) is a genetic disorder characterized by persistently elevated low-density lipoprotein (LDL) cholesterol levels and a high risk of premature atherosclerotic cardiovascular disease. We report the case of a patient with biallelic FH due to compound heterozygosity, who developed severe coronary artery disease at a young age and showed a favorable response to a combined lipid-lowering regimen. Family genetic analysis revealed a shared pattern among siblings, although with marked phenotypic variability in lipid profiles, clinical manifestations, and therapeutic response. Among the findings in family members, notable cases included accelerated aortic calcification and unusually low lipid levels, without identified variants in the LDL receptor. This case underscores the importance of a personalized approach to FH management, phenotypic variability, and the value of family genetic testing for cardiovascular risk characterization.
Keywords: Familial hypercholesterolemia. Coronary artery disease. Phenotypic variability. Severe hypercholesterolemia.