Sabatel-Pérez, FernandoSánchez-Prieto, JoaquínBecerra-Muñoz, Víctor ManuelAlonso-Briales, Juan HoracioMata, PedroRodríguez-Padial, Luis2025-01-072025-01-072021-02-132077-0383https://hdl.handle.net/10668/26522The majority of familial hypercholesterolemia index cases (FH-IC) remain underdiagnosed and undertreated because there are no well-defined strategies for the universal detection of FH. The aim of this study was to evaluate the diagnostic yield of an active screening for FH-IC based on centralized analytical data. From 2016 to 2019, a clinical screening of FH was performed on 469 subjects with severe hypercholesterolemia (low-density lipoprotein cholesterol ≥220 mg/dL), applying the Dutch Lipid Clinic Network (DLCN) criteria. All patients with a DLCN ≥ 6 were genetically tested, as were 10 patients with a DLCN of 3-5 points to compare the diagnostic yield between the two groups. FH was genetically confirmed in 57 of the 84 patients with DLCN ≥ 6, with a genetic diagnosis rate of 67.9% and an overall prevalence of 12.2% (95% confidence interval: 9.3% to 15.5%). Before inclusion in the study, only 36.8% (n = 21) of the patients with the FH mutation had been clinically diagnosed with FH; after genetic screening, FH detection increased 2.3-fold (penAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/atherosclerosis preventionearly detectionfamilial hypercholesterolemiagenetic screeningresearch article33668494open access10.3390/jcm10040749PMC7918446https://www.mdpi.com/2077-0383/10/4/749/pdf?version=1614250934https://pmc.ncbi.nlm.nih.gov/articles/PMC7918446/pdf