Abstract
Background/Objectives: Familial hypercholesterolemia (FH) is a monogenic dyslipidemia that leads to early cardiovascular events. Subclinical atherosclerosis refers to the formation of atheromatous plaques in arterial beds before any clinical events. In our study, we investigated the presence, extent, and independent predictors of subclinical atherosclerosis among patients diagnosed with FH. Methods: This was a single-center, prospective, and cross-sectional study. This original study included 215 patients diagnosed with FH from a cohort of 1145 individuals assessed according to the Dutch Lipid Clinical Network (DLCN) criteria. Carotid and femoral ultrasonography were performed, and the coronary artery calcium score was measured to screen for subclinical atherosclerosis. Apolipoprotein A-I, apolipoprotein B, and lipoprotein (a) were analyzed using the nephelometric method. Results: The study cohort comprised 136 females (63%) with a mean age of 54 (43-62) years. The stigmata rate was 18%. The rate of statin use during subclinical atherosclerosis screening was 32% and only eight patients (4%) attained LDL-C values < 70 mg/dL. Subclinical atherosclerosis was observed in 148 patients (69%), with rates of 48%, 47.5%, and 40.5% in the coronary arteries, carotid bifurcation, and femoral bifurcation, respectively. Advanced age, male sex, high pretreatment low-density lipoprotein-cholesterol (LDL-C) level, diabetes, and a low Apo A-I/Apo B ratio were identified as independent predictors of subclinical atherosclerosis. Lp(a) levels ≥ 30 mg/dL predicted coronary atherosclerosis, while diabetes and low Apo A-I/Apo B ratios predicted carotid atherosclerosis, and smoking predicted femoral atherosclerosis. Conclusions: Subclinical atherosclerosis is prevalent, and medication adherence remains suboptimal among FH patients. Screening for subclinical atherosclerosis may impact the treatment strategies, via an increase in physician commitment to treatment protocols and improving patient compliance.