%0 Journal Article
%A Sabatel-Pérez, Fernando
%A Sánchez-Prieto, Joaquín
%A Becerra-Muñoz, Víctor Manuel
%A Alonso-Briales, Juan Horacio
%A Mata, Pedro
%A Rodríguez-Padial, Luis
%T Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data
%D 2021
%U http://hdl.handle.net/10668/4254
%X 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.
%K Familial hypercholesterolemia
%K Genetic screening
%K Atherosclerosis prevention
%K Early detection
%K Hiperlipoproteinemia tipo II
%K Pruebas genéticas
%K Aterosclerosis
%K Prevención primaria
%K Diagnóstico precoz
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