2026-07-16T14:21:44Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/182542024-11-28T15:40:27Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927

00925njm 22002777a 4500 dc Sabatel-Pérez, Fernando author Sánchez-Prieto, Joaquín author Becerra-Muñoz, Víctor Manuel author Alonso-Briales, Juan Horacio author Mata, Pedro author Rodríguez-Padial, Luis author 2021-02-13 The 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 (p < 0.001). The sequential, active screening strategy for FH-IC increases the diagnostic yield for FH with a rational use of the available resources, which may facilitate the implementation of FH universal and family-based cascade screening strategies. 10.3390/jcm10040749 2077-0383 Journal of Clinical Medicine http://hdl.handle.net/10668/4254 33668494 http://hdl.handle.net/20.500.12105/18254 Familial hypercholesterolemia Genetic screening Atherosclerosis prevention Early detection Hiperlipoproteinemia tipo II Pruebas genéticas Aterosclerosis Prevención primaria Diagnóstico precoz Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data