Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects

• Published in: European journal of clinical investigation 1998-12, Vol.28 (12), p.971-979
• Main Authors: Tonstad, S, Joakimsen, O, Stensland-Bugge, E, Ose, L, Bønaa, K H, Leren, T P
• Format: Article
• Language: English
• Subjects: Adult; Arteriosclerosis - epidemiology; Blood Pressure; Body Mass Index; Carotid Arteries - diagnostic imaging; Carotid Arteries - pathology; Carotid artery; familial hypercholesterolaemia; Female; Humans; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - epidemiology; Hyperlipoproteinemia Type II - genetics; Hyperlipoproteinemia Type II - pathology; Lipids - blood; low-density lipoprotein receptor; Male; Middle Aged; Multivariate Analysis; Mutation; mutations; Risk Factors; Tunica Intima - diagnostic imaging; Tunica Intima - pathology; Tunica Media - diagnostic imaging; Tunica Media - pathology; Ultrasonography; Xanthomatosis - epidemiology
• ISSN: 0014-2972; 1365-2362
• DOI: 10.1046/j.1365-2362.1998.00399.x

Background In individuals with familial hypercholesterolaemia (FH), ultrasonographic measurement of carotid intima–media thickness (IMT) and plaque may provide a non‐invasive assessment of cardiovascular risk. Methods We examined carotid artery IMT and its determinants in 79 non‐smoking, normotensive, treated men and women with FH aged 26–46 years, and in 79 non‐smoking, normotensive sex‐, age‐ and body mass index‐matched control subjects. FH was verified by molecular genetic analyses. The underlying mutation in the low‐destiny lipoprotein receptor gene included a splice‐site mutation, mutations predicted or shown to lead to class 2B mutations or other mutations that probably represent class I mutations (null alleles). Results The carotid bifurcation and common carotid artery IMT was increased in men with FH compared with control subjects (0.81  ±  0.15 mm vs. 0.74  ±  0.19 mm and 0.61  ±  0.13 mm vs. 0.55  ±  0.14 mm respectively; P