DETECCIÓN TEMPRANA DE DISLIPEMIAS HEREDITARIAS: UN ENFOQUE EN LA HIPERCOLESTEROLEMIA FAMILIAR
Keywords:
hipercolesterolemia familiar, diagnóstico precoz, dislipemias hereditarias, pruebas genéticas, prevención cardiovascularAbstract
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that disrupts lipid metabolism and increases the risk of premature cardiovascular disease. Despite being one of the most common inherited dyslipidemias, its global prevalence remains underestimated. Early detection is essential to implement interventions that reduce atherogenic risk. Diagnostic methods include clinical criteria, biochemical testing, and genetic analysis, with the latter being the most specific. However, genetic testing remains underutilized in many healthcare systems. This review examines the global prevalence of FH and evaluates the effectiveness of current diagnostic tools. It emphasizes the need for widespread screening programs and ongoing medical education to improve early diagnosis and ensure timely treatment, ultimately reducing the long-term cardiovascular burden associated with undetected cases.Downloads
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