Marked HDL deficiency and premature coronary heart disease
Ernst J Schaefer, Raul D Santos, Bela F Asztalos, Ernst J Schaefer, Raul D Santos, Bela F Asztalos
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.
Figures
![Figure 1. In the left panel the…](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/6942922/bin/nihms844715f1.jpg)
![Figure 2. A composite of the HDL…](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/6942922/bin/nihms844715f2.jpg)
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![Figure 4. Models of apoA-I containing HDL…](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/6942922/bin/nihms844715f4.jpg)
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![Figure 8. A multidetector 64 slice computed…](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/6942922/bin/nihms844715f8.jpg)
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Source: PubMed