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 atherosclerosis prevention
K1 early detection
K1 familial hypercholesterolemia
K1 genetic screening
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
SN 2077-0383
YR 2021
FD 2021-02-13
LK https://hdl.handle.net/10668/26522
UL https://hdl.handle.net/10668/26522
LA en
DS RISalud
RD Apr 12, 2025