Hypoalphalipoproteinemia

Definition:

Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene.

References:

[1]. Jenelle M Timmins, et al. Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I. J Clin Invest. 2005 May;115(5):1333-42. [Content Brief]

[2]. Patricia Esperón, et al. A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease. Clin Chim Acta. 2008 Feb;388(1-2):222-4. [Content Brief]

[3]. S Mott, et al. Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. Atherosclerosis. 2000 Oct;152(2):457-68. [Content Brief]

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