Inherited disorders of HDL metabolism and atherosclerosis

摘要: PURPOSE OF REVIEW: Genetic disorders of HDL metabolism are rare and, as a result, the assessment atherosclerosis risk in individuals suffering from these has been difficult. Ultrasound imaging carotid arteries provided tool to assess hereditary hypo and hyperalphalipoproteinemia. This review gives comprehensive summary. RECENT FINDINGS: Epidemiological studies have unequivocally shown that cholesterol levels inversely related coronary artery disease risk, but literature concerning genetic provides less convincing information. Fortuitously, we were able directly compare intima media thickness data substantial numbers with mutations either apolipoprotein A-I (apoA-I), ATP binding cassette AI (ABCA1), lecithin: acyltransferase (LCAT) or cholesteryl ester transfer protein. These show carriers an apoA-I mutation exhibit most pronounced accelerated compared those carrying ABCA1 LCAT. Heterozygosity for non-sense protein did, by contrast, not distinguish controls terms progression. We will discuss results context current literature. SUMMARY: Intima evidence hypoalphalipoproteinemia due apoA-I, ABCA1, LCAT is associated increased progression atherosclerosis. In hyperalphalipoproteinemia result loss function unaltered family controls. insight interest, since it can assist prioritizing antiatherogenic therapy increasing levels.