La hipercolesterolemia familiar una causa genética de la enfermedad cardiovascular
Keywords:
Hipercolesterolemia familiar, Colesterol LDL, Enfermedades cardiovasculares, Mutaciones genéticas, AterosclerosisAbstract
Cardiovascular diseases are the leading cause of death worldwide and are strongly associated with behavioral and environmental risk factors. Familial hypercholesterolemia (FH) is a common genetic disorder characterized by elevated LDL-C levels and a significantly increased cardiovascular risk. It can present in homozygous or heterozygous forms with varying severity. Its pathophysiology involves LDL accumulation in arterial walls, promoting atherosclerosis. Although clinical diagnosis is useful, it has limitations; therefore, genetic testing is essential due to its high specificity. This approach enables identification of mutations, risk assessment, and the development of personalized therapeutic strategies aimed at preventing cardiovascular disease.
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