Familial Hypercholesterolemia in Latin America: Unmet Needs, Barriers, and Challenges

Familial hypercholesterolemia (FH) is the most common monogenic disorder predisposing individuals to premature atherosclerotic cardiovascular disease. Despite an estimated prevalence of 1 in 250 individuals, FH remains largely underdiagnosed and undertreated across Latin America, where more than 2 million people are expected to be living with FH. Early identification and intensive lipid-lowering therapy substantially improve clinical outcomes; however, multiple structural, socioeconomic, and educational barriers continue to limit optimal care throughout the region. FH detection rates remain low, and screening strategies are implemented heterogeneously: while opportunistic screening is emerging in some settings, cascade screening remains underdeveloped, with the exception of pioneering programs in Brazil and Uruguay. Real-world data from regional registries consistently demonstrate poor attainment of low-density lipoprotein cholesterol targets, partly due to the predominant use of statin monotherapy. Strengthening clinical registries, expanding access to genetic testing, implementing structured cascade screening programs, and improving availability of effective lipid-lowering therapies are essential steps to reduce the clinical and public health burden of FH in Latin America.