Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia

• Published in: European journal of clinical investigation 2003-01, Vol.33 (1), p.1-9
• Main Authors: Descamps, O. S., Gilbeau, J.-P., Luwaert, R., Heller, F. R.
• Format: Article
• Language: English
• Subjects: Adult; Aged; Apolipoproteins B - genetics; Biological and medical sciences; Calcinosis - genetics; Cardiology. Vascular system; Coronary artery calcification; Coronary Artery Disease - etiology; Coronary Artery Disease - genetics; coronary atherosclerosis; Coronary heart disease; Disorders of blood lipids. Hyperlipoproteinemia; Exercise Test; familial hypercholesterolaemia; Female; Heart; Heterozygote; Humans; Hyperlipoproteinemia Type II - complications; Hyperlipoproteinemia Type II - genetics; Lipoprotein(a) - genetics; low-density lipoprotein receptor mutation; Male; Medical sciences; Metabolic diseases; Middle Aged; Mutation; Odds Ratio; Receptors, LDL - genetics; Risk Factors
• ISSN: 0014-2972; 1365-2362
• DOI: 10.1046/j.1365-2362.2003.01094.x

Background In the present study we assessed whether the presence of genetic mutations typical of familial hypercholesterolaemia (FH) was associated with greater atherosclerosis in the coronary vessels in patients with severe hypercholesterolaemia and a family history of early cardiovascular disease. Materials and methods Two hundred and thirty‐five patients selected for having severe hypercholesterolaemia and a family history of cardiovascular disease were classified as FH (57 men and 38 women) or non‐FH (84 men and 56 women) according to a genetic analysis of the LDL‐R or ApoB genes. Coronary atherosclerosis was evaluated by performing a thoracic CT scan and exercise stress testing. Results Familial hypercholesterolaemia individuals had a significantly higher prevalence of coronary calcification than the non‐FH patients from among both the men (OR = 3·90; 95% CI 1·86–8·19; P