Aims: Despite the established link between familial hypercholesterolemia (FH) and increased risk of
coronary heart disease (CHD), its association with other common atherosclerotic and metabolic diseases has
not been extensively studied. The aim of this study was to report the prevalence of peripheral arterial disease
(PAD) [i.e., common carotid artery disease (CCAD) and lower extremity arterial disease (LEAD)], aortic valve
stenosis, chronic kidney disease (CKD) and non-alcoholic fatty liver disease (NAFLD) in patients with FH.
Materials & Methods: This was a cross-sectional study retrieving data from the Hellenic Familial Hypercholesterolemia
Results: A total of 1,633 adult patients (850 males) with heterozygous FH (HeFH) were included (mean age
51.3±14.6 years at registration and 44.3±15.9 years at diagnosis). Any common carotid artery stenosis (CCAS)
was diagnosed in 124 out of 569 patients with available related data (21.8%), while the prevalence of CCAD
(defined as a CCAS ≥50%) was 4.2%. The median (interquartile range - IQR) CCAS was 30% (20-40),
whereas the median (IQR) carotid intima-media thickness (CIMT) was 0.7 (0.1-1.4) mm. LEAD was reported
in 44 patients (prevalence 2.7%). The prevalence of aortic valve stenosis and CKD was 2.0% and 6.4%, respectively.
NAFLD was present in 24% of study participants.
Conclusion: HeFH is associated with a relatively high prevalence of any CCAS and CCAD. The prevalence of
LEAD, CKD and aortic valve stenosis was relatively low, whereas the prevalence of NAFLD was similar to
that of the general population.