Marked HDL deficiency and premature coronary heart disease
Open accessAbstract
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.
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Approximately 10% of individuals with HDL-C levels below the 5th percentile are heterozygous for mutations in the genes of APOA1, ABCA1 or LCAT.
“According to the results from Danish and American population studies, approximately 10% of individuals with HDL-C levels below the 5th percentile are heterozygous for mutations in the genes of APOA1, ABCA1 or LCAT [28, 29].”
From HDL cholesterol: reappraisal of its clinical relevance (2017) · cites this paper as [28]
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- Authors
- Schaefer, E. J., Santos, R. D., & Asztalos, B. F.
- Affiliations
- Tufts University (US)
- Universidade de São Paulo (BR)
- Corresponding author
- Schaefer, Ernst J
- Venue
- Current Opinion in Lipidology
- Published
- 2010-08
- Volume
- 21
- Issue
- 4
- Pages
- 289-297
- ISSN
- 0957-9672 (ISSN-L)
- PMC
- PMC6942922
- OpenAlex
- W2063658298
- Cited by
- 127
- References
- 13
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 4 · 2023: 3 · 2022: 10 · 2021: 6 · 2020: 6 · 2019: 4 · 2018: 8 · 2017: 7 · 2016: 6 · 2015: 11 · 2014: 13 · 2013: 14 · 2012: 10
- FWCI
- 13.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Opinion in Lipidology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5f32hl007475-02, 5p50hl083813-05)
- National Heart, Lung, and Blood Institute (HL 60935, R01HL074753, P050HL083813, R01HL060935, HL 7475, P50-HL083813)
- Topics
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- apolipoprotein A-I, premature coronary artery disease, xanthoma, amyloidosis, Tangier disease, ABCA1, lecithin:cholesterol acyltransferase deficiency, immune response, kidney disease, corneal opacity, neuropathy
- MeSH terms
- Amyloidosis, Base Sequence, Coronary Disease, Humans, Phosphatidylcholine-Sterol O-Acyltransferase, Lipoproteins, HDL, Apolipoprotein A-I, ATP-Binding Cassette Transporters
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