RT Journal Article
T1 Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data
A1 Sabatel-Pérez, Fernando
A1 Sánchez-Prieto, Joaquín
A1 Becerra-Muñoz, Víctor Manuel
A1 Alonso-Briales, Juan Horacio
A1 Mata, Pedro
A1 Rodríguez-Padial, Luis
K1 Familial hypercholesterolemia
K1 Genetic screening
K1 Atherosclerosis prevention
K1 Early detection
K1 Hiperlipoproteinemia tipo II
K1 Pruebas genéticas
K1 Aterosclerosis
K1 Prevención primaria
K1 Diagnóstico precoz
AB 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.
PB MDPI
YR 2021
FD 2021-02-13
LK http://hdl.handle.net/10668/4254
UL http://hdl.handle.net/10668/4254
LA en
NO Sabatel-Pérez F, Sánchez-Prieto J, Becerra-Muñoz VM, Alonso-Briales JH, Mata P, Rodríguez-Padial L. Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data. J Clin Med. 2021 Feb 13;10(4):749
DS RISalud
RD Apr 10, 2025