DOI: https://doi.org/10.36347/sjmcr.2026.v14i07.018

Pages: 1683-1685

Familial hypercholesterolemia remains significantly underdiagnosed despite its severe impact on cardiovascular morbidity (Gidding et al., 2024; Knowles et al., 2014). Elevating premature sudden cardiac death as a sentinel diagnostic criterion is essential for identifying affected asymptomatic individuals before lethal events occur. It ensures early implementation of lipid-lowering therapies that effectively mitigating the progression of preventable atherosclerotic cardiovascular disease (Campbell‐Salome et al., 2021; Watts et al., 2023). Furthermore, leveraging this indicator helps overcome the limitations of current diagnostic models, which often fail to account for the diverse genetic modifiers and polygenic factors that influence phenotypic expression (Fahed & Nemer, 2011). Given that individuals with familial hypercholesterolemia experience an increased risk of atherosclerotic cardiovascular disease up to ten-fold compared to the general population, utilizing fatal cardiac events as a diagnostic trigger can dramatically improve case detection (Knowles et al., 2017). (Trinder et al., 2020). Moreover, adopting this mortality-centric diagnostic trigger aligns with contemporary efforts to integrate automated electronic health record querying, which can facilitate active case-finding across large patient populations (Ahmad et al., 2016; Gu et al., 2024). Such data-driven identification models, particularly when utilizing electronic healthcare records, have demonstrated superior cost-effectiveness and efficacy compared to universal population screening, offering a scalable solution to reach national detection targets (Page et al., 2023a, 2023b).