Intima-media thickness correlates with features of metabolic syndrome in young people with a clinical diagnosis of familial hypercholesterolaemia.

Background: Familial hypercholesterolaemia (FH) is a monogenic lipid metabolism disorder characterised by markedly elevated serum low-density lipoprotein (LDL) cholesterol level due to a mutation in the LDL receptor gene. Clinical features of FH include premature atherosclerosis and coronary artery disease.

Aim: To explore associations between noninvasive markers of atherosclerosis including intima-media thickness (IMT) and pulse wave velocity (PWV) and blood lipids, blood pressure (BP) and obesity in a group of young patients with FH.

Methods: Study population included 36 patients aged < 35 years with the diagnosis of FH based on the Simon Broome Register criteria, and their 49 relatives who comprised the control group free of FH.

Results: Mean IMT values were higher in FH patients than controls (0.60 ± 0.19 vs. 0.53 ± 0.07 mm, respectively, p < 0.05).Mean body mass index (BMI) and waist circumference were similar in patients and controls. The prevalence of carotid atherosclerotic plaques was significantly higher among FH patients (n = 6) than in controls (n = 1) (21.4% vs. 2.6%, p = 0.012). Arterial hypertension was present in 27.8% of patients with FH and 16.3% of subjects in the control group. Systolic blood pressure (SBP) in FH patients correlated significantly with age (r = 0.35), BMI (r = 0.48) and waist circumference (r = 0.47), and diastolic blood pressure (DBP) correlated with BMI (r = 0.42) and waist circumference (r = 0.41). PWV correlated significantly with age (r = 0.44), SBP (r = 0.63) and DBP (r = 0.52). We did not find any correlations between IMT and serum lipids, BP or obesity indices in FH patients.

Conclusions: Our findings show a higher rate of arterial hypertension in young FH patients compared to their relatives free of FH, with significant associations between BP and indices of obesity and arterial stiffness. Intensive lipid lowering and antihypertensive therapy along with a reduction in central fat may be considered a mandatory treatment strategy in young FH patients to prevent atherosclerosis and increased arterial stiffness.