Hyperalphalipoproteinemia

Definition:

Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations are associated with an increased coronary artery disease (CAD) risk.

References:

[1]. A von Eckardstein, et al. Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. J Clin Invest. 1991 May;87(5):1724-31. [Content Brief]

[2]. S Yamashita, et al. Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):257-75. [Content Brief]

[3]. Toni I Pollin, et al. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science. 2008 Dec 12;322(5908):1702-5. [Content Brief]

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