Purpose: The purpose of this study was assessment of endothelial function and arterial stiffness parameters in subjects with familial and non-familial hypercholesterolemia.

Methods: We studied endothelial function and arterial stiffness in 60 subjects (mean age 41.9±7.7 years): 20 patients with elevated LDL and genetically confirmed familial hypercholesterolemia; 20 patients with elevated LDL without mutations causing FH; 20 healthy controls with normal LDL. All study subjects were without previous cardiovascular events and had no symptoms of cardiovascular diseases. High-resolution ultrasound was used to determine flow-mediated dilation in the brachial artery. Echo-tracking and photoplethysmography technique were used for assessment of the arterial stiffness parameters.

Results: FMD was significantly lower in patients with FH and in all patients with elevated LDL compared with controls (10.5±9.6% vs 21±14.3%, p<0.05; 12.5±10 vs 21±14.3%, p<0.05). There were no differences in arterial stiffness parameters in all groups. Significant correlation between FMD and arterial stiffness parameters measured with used echo-tracking methods were noted. There were no significant correlations between echo-tracking and photoplethysmographically assessed arterial stiffness parameters.

Conclusions: Reduced FMD in FH patients may be due to endothelial dysfunction. No significant differences in arterial stiffness parameters show that atherosclerosis is not advanced in patients with hypercholesterolemia. Significant correlations between ultrasonographically assessed arterial stiffness parameters and endothelial dysfunction show that echo-tracking methods can be used for early detection of arterial remodeling in patients with hypercholesterolemia. FMD can be used for early detection of endothelial dysfunction preceding atherosclerotic process in patients with FH without significant cardiovascular disease.