Arq. Bras. Cardiol. 2025; 122(3): e20250178

Detecting Familial Hypercholesterolemia in Adolescents: Universal Screening is Key

Fernando Yue Cesena

DOI: 10.36660/abc.20250178i

This Short Editorial is referred by the Research article "Cascade Screening in Adolescents with Lipid Disorders Suggestive of Familial Hypercholesterolemia: Findings from the ERICA Study in Curitiba".

Familial hypercholesterolemia (FH) is a genetic disorder characterized by impaired clearance of low-density lipoprotein (LDL) particles from plasma to hepatocytes, resulting in elevated plasma LDL-Cholesterol (LDL-C) levels and a significantly increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Recent meta-analyses indicate an FH prevalence of approximately 1 in 310 individuals in the general population.^, Importantly, FH remains substantially underdiagnosed, and most affected individuals live with LDL-C levels above recommended targets.

Early identification of FH is critical for preventing ASCVD events. From a pathophysiological perspective, atherosclerosis develops due to cumulative arterial exposure to elevated LDL particles. Both the magnitude of excessive LDL particles in plasma and the duration of exposure are relevant for plaque development and progression. In this regard, FH is of particular concern because affected individuals have very high LDL-C levels since birth/childhood. Early diagnosis and consequent awareness of the problem increase the chance of adopting a healthy lifestyle in the long term. Early LDL-C lowering improves endothelial function, attenuates atherosclerosis progression, and diminishes the risk of coronary events.^,,

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