Cited by 127Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular HealthLipid metabolism and disorders

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Marked HDL deficiency and premature coronary heart disease

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Schaefer, Ernst J, Santos, Raul D, Asztalos, Bela F·2010·Current Opinion in Lipidology

DOI 10.1097/mol.0b013e32833c1ef6PMC PMC6942922

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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.

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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
ORCID: Schaefer, Ernst J
Santos, Raul D
Asztalos, Bela F
Venue: Current Opinion in Lipidology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2010-08
Volume: 21
Issue: 4
Pages: 289-297
ISSN: 0957-9672 (ISSN-L)
DOI: 10.1097/mol.0b013e32833c1ef6
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: Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › 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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