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• W2079986890 abstract "Familial hypercholesterolaemia is a common genetic disorder caused by a mutation in the LDL-receptor gene which renders the receptor non-functional. The disease affects about 1 in 500 people in its heterozygous form and about 1 in 1 million people in its homozygous form. Patients with heterozygous familial hypercholesterolaemia have increased concentrations of LDL cholesterol, typically ranging from 6 to 13 mmol/L, and a dramatically increased risk for developing coronary heart disease. According to a UK study, 1 Slack J Risks of ischaemic heart-disease in familial hyper-lipoproteinaemic states. Lancet. 1969; 2: 1380-1382 Summary PubMed Google Scholar the risk of the first event of coronary heart disease in men with untreated familial hypercholestero-laemia was 24% by the age of 40 years and 51% by age 50. Men with familial hypercholesterolaemia are especially prone to premature coronary heart disease, but the risk is also substantially increased in affected women. 2 Stone NJ Fredrick D Verter J Levy RI Coronary-artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation. 1974; 49: 476-488 Crossref PubMed Scopus (349) Google Scholar Children affected with familial hypercholesterolaemia have functional and structural abnormalities in their arteries that are indicative of accelerated preclinical atherosclerosis. Ultra-sonographically detected intima-media thickenings of the carotid arteries 3 Tonstad S Joakimsen O Stensland-Bugge E et al. Risk factors related to carotid intima-media thickness and plaque in children with familial hypercholesterolemia and control subjects. Arterioscler Thromb Vasc Biol. 1996; 16: 984-991 Crossref PubMed Scopus (282) Google Scholar and abdominal aorta 4 Järvisalo MJ Jartti L Nänto-Salonen K et al. Increased aortic intima-media thickness: a marker of preclinical atherosclerosis in high-risk children. Circulation. 2001; 104: 2943-2947 Crossref PubMed Scopus (413) Google Scholar can be detected in prepubertal children with familial hypercholesterolaemia. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemiaPatients with familial hypercholesterolaemia have severe coronary-artery disease early in adult life. Whether lipid-lowering treatment should be started in childhood remains to be established. We therefore assessed 201 children heterozygous for familial hypercholesterolaemia and 80 unaffected siblings (both age ranges 8–18 years) with B-mode ultrasound to measure carotid wall intima-media thickness. Mean combined carotid intima-media thickness of heterozygotes was significantly greater than that of unaffected siblings (0·494 mm [SD 0·051] vs 0·472 [SD 0·049], p=0·002). Full-Text PDF" @default.
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• W2079986890 date "2004-01-01" @default.
• W2079986890 modified "2023-09-23" @default.
• W2079986890 title "Arterial abnormalities in children with familial hypercholesterolaemia" @default.
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• W2079986890 doi "https://doi.org/10.1016/s0140-6736(04)15472-x" @default.
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