Screening of familial hypercholesterolemia among patients in age under 40 years old exposed by duplex scanning of carotid arteries, by the local registry data

Abstract

The aim of the study - to identify patients with probable FH among Duplex-2013 registry patients under the age of 40 years, to analyze their lipid spectrum and duplex carotid artery data, to evaluate the changes of their lipid spectrum parameters. Materials and methods. The Duplex-2013 registry database was used for this study (n=2550). Patients under the age of 40 years were selected for follow-up analysis (n=192). Results. 20 of them were selected on the basis of Simon Broome criteria as patients with possible FH. The FH group (n=20) and the control group (n=172) had significant differences in age (35.1 ± 4.01 vs. 32.62 ± 5.29, p=0.044), male gender (18 of 20 (90%) vs 92 of 172 (53%), p=0.003), TC (7.64 ± 0.63 vs 5.34 ± 0.91, p=0.0001) and LDL-C cholesterol (5.45 ± 0.62 vs 3.28 ± 0.78, p=0.00001). When comparing the groups by the combined criterion of atherosclerosis (IMT > 1.0 mm and / or atherosclerotic plaque in the carotid artery >20%), it was noted that signs of carotid atherosclerosis were more often recorded in the FH group compared with the control group (40% vs 26%). Repeated laboratory studies of TC and LDL-C in the FH group after 2.5 years showed their significant dynamics (7.64 ± 0.63 vs 6.03 ± 1.04, p=0.007, 5.45 ± 0.63 vs 3.84 ± 1.24, p=0.035). Conclusions. The frequency of detection of FH in the cohort study was 1:10 (11% of all patients). Thus, patients referred for duplex scanning of carotid arteries can be a potential target for screening for FH.

Keywords

• familial hypercholesterolemia
• screening
• total cholesterol
• low density lipoprotein cholesterol
• carotid atherosclerosis
• intima media thickness
• duplex scanning