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oai:repisalud.isciii.es:20.500.12105/182542024-11-28T15:40:27Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927
Repisalud author Sabatel-Pérez, Fernando author Sánchez-Prieto, Joaquín author Becerra-Muñoz, Víctor Manuel author Alonso-Briales, Juan Horacio author Mata, Pedro author Rodríguez-Padial, Luis authoraffiliation [Sabatel-Pérez,F; Sánchez-Prieto,J; Rodríguez-Padial,L] Department of Cardiology, Complejo Hospitalario Universitario de Toledo, Toledo, Spain. [Sabatel-Pérez,F; Becerra-Muñoz,VM; Alonso-Briales,JH] Unidad de Gestión Clínica Área del Corazón, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria de Málaga, Universidad de Málaga (UMA), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Málaga, Spain. [Mata,P] Fundación Hipercolesterolemia Familiar, Madrid, Spain. 2024-02-19T15:25:02Z 2024-02-19T15:25:02Z 2021-02-13 10.3390/jcm10040749 2077-0383 Journal of Clinical Medicine http://hdl.handle.net/10668/4254 33668494 http://hdl.handle.net/20.500.12105/18254 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. eng 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 research article