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Curr Opin Lipidol. 2010 Aug;21(4):289-97. doi: 10.1097/MOL.0b013e32833c1ef6.

Marked HDL deficiency and premature coronary heart disease.

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  • 1Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Tufts University School of Medicine, Boston, Massachusetts 02111, USA. ernst.schaefer@tufts.edu

Abstract

PURPOSE OF REVIEW:

Our purpose is to review recent publications in the area of marked human HDL deficiency, HDL particles, coronary heart disease (CHD), amyloidosis, the immune response, and kidney disease.

RECENT FINDINGS:

Lack of detectable plasma apolipoprotein (apo) A-I can be due to DNA deletions, rearrangements, or nonsense or frameshift mutations within the APOA1 gene resulting in a lack of apoA-I secretion. Such patients have marked HDL deficiency, normal levels of triglycerides and LDL cholesterol, and can have xanthomas and premature CHD. ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50-93 and 170-178, have been associated with amyloidosis. Patients with homozygous Tangier disease have defective cellular cholesterol efflux due to mutations in the adenosine triphosphate-binding cassette transporter A1, detectable plasma apoA-I levels and prebeta-1 HDL in their plasma. They have decreased LDL cholesterol levels and can develop neuropathy and premature CHD. Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure.

SUMMARY:

Patients with marked HDL deficiency can have great differences in their clinical phenotype depending on the underlying defect.

PMID:
20616715
[PubMed - indexed for MEDLINE]
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