Carotid intima-media thickness in young patients with familial hypercholesterolaemia.

Abstract

Objective-To assess the extent of early atherosclerotic changes of the carotid arteries in young patients with familial hypercholesterolaemia (FH) detected as increased intima-media thickness (IMT), and to determine the relations between IMT and some clinical and blood variables such as lipid and lipoprotein(a) (Lp(a)) concentration and haemostatic factors. Design-The IMT of the carotid bifurcation, the proximal 1 cm of the internal carotid artery, and the distal 1 cm of the common carotid artery was determined in all subjects using B mode ultrasonography. Blood lipids, fasting glucose, and several haemostatic variables were also analysed. Subjects-28 patients with FH (12 males and 16 females aged 11 to 27 years, one homozygote, 27 heterozygotes) and 28 sex and age matched normolipidaemic healthy subjects. Results-The mean carotid IMT (the average of six measurements of the maximum far wall IMT in the three carotid segments on each side) was significantly greater in patients with FH than in controls (mean (SD) 0-71 (0.15) v 0 49 (0.08) mm, P < 0.001). In all subjects, the mean IMT was significantly correlated with total cholesterol (r = 0.59), low density lipoprotein (LDL) cholesterol (r = 0.60), triglycerides (r = 0.27), and systolic blood pressure (r = 0 47

Do mutations causing low HDL-C promote increased carotid intima-media thickness?

“…Consistent with these observations are the rarity of cases of premature CHD in patients with Tangier Disease or LCAT deficiency (21) when other traditional risk factors are lacking and the low likelihood of CHD in the setting of normocholesterolemic low HDL-C (22). This is in contrast to hyperlipidemic states (e.g., familial hypercholesterolemia) where increased cIMT has been consistently observed (23)(24)(25). Thus, while our data do not preclude the importance of low HDL-C (or its associated genetic variants) in augmenting CHD risk, they temper these suggestions and raise the possibility that the genetic mutations causing low HDL-C as reported herein, may be insufficient to cause appreciable carotid atherosclerosis as assessed by β-mode ultrasound imaging.…”

Increased Levels of Low-Density Lipoprotein Oxidation in Patients with Familial Hypercholesterolemia and in End-Stage Renal Disease Patients on Hemodialysis

“…Cardiovascular disease (CVD) was more frequent in ESRD patients on hemodialysis and in FH than in controls, but the number of CVD events may not fully reflect the severity of the atherosclerotic disease in the patients. Using B-mode ultrasound, a technique that visualizes atherosclerotic changes in the walls of arteries, it has been demonstrated that carotid artery intima-media thickness is markedly increased, plaque is more frequent, and calcified plaque is common in FH and in ESRD (Haraki et al, 2001;Lavrencic et al, 1996;Pannier et al, 2000;Savage et al, 1998;Smilde et al, 1998;Tonstad et al, 1998). Thus, atherosclerotic disease is underestimated in FH and in ESRD if presented as CVD events only.…”

Management of familial hypercholesterolemia in children and young adults: Consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization

“…Firstly, high cholesterol in children has a substantial subclinical impact, which is already measurable from the age of 5 years. In children with a mutation, endothelial dysfunction can be observed (measured by the dilatation of the brachial artery associated with an intense post-ischaemic flow of arterial blood) [4], as well as a greater IMT thickening detected by carotid echography [5][6][7]. Secondly, high cholesterol levels in childhood increasingly appear to be a good predictor of cardiovascular risk later in life [8,9].…”