Cited by 112Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular HealthLipid metabolism and disorders

Differential diagnosis of familial high density lipoprotein deficiency syndromes

von Eckardstein, Arnold·2006·Atherosclerosis

Abstract

Monogenic high density lipoprotein (HDL) deficiency, because of defects in the genes of apolipoprotein A-I (apoA-I), adenosine triphosphate binding cassette transporter A1 (ABCA1) or lecithin:cholesterol acyltransferase (LCAT), can be assumed in patients with HDL cholesterol levels below the fifth percentile within a given population. As in a first step underlying diseases should be excluded. Patients with a virtual absence of HDL must undergo careful physical examination to unravel the clinical hallmarks of certain HDL deficiency syndromes. In addition, family studies should be initiated, to demonstrate the vertical transmission of the low HDL cholesterol phenotype. Definitive diagnosis requires specialized biochemical tests and the demonstration of a functionally-relevant mutation in one of the three discussed candidate genes. As yet no routinely used drug is able to increase HDL cholesterol levels in patients with familial low HDL cholesterol so that prevention of cardiovascular disease in these patients must be focused on the avoidance and treatment of additional risk factors.

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Crossref · 10.1016/j.atherosclerosis.2005.10.033

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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 [29]

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Authors
von Eckardstein, A.
Venue
Atherosclerosis
Publisher
Elsevier BV
Published
2006-06
Volume
186
Issue
2
Pages
231-239
ISSN
0021-9150 (ISSN-L)
OpenAlex
W2160550927
Cited by
112
References
50
Citations by year
2024: 2 · 2023: 3 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 4 · 2018: 7 · 2017: 6 · 2016: 3 · 2015: 3 · 2014: 5 · 2013: 5 · 2012: 6
FWCI
1.74
Type
journal article
Language
en
Open access
closed
Locations
  • Atherosclerosis (publishedVersion)
  • PubMed (publishedVersion)
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, ABCA1, lecithin:cholesterol acyltransferase, low HDL cholesterol, differential diagnosis, vertical transmission, genetic mutations, cardiovascular disease prevention, cardiovascular risk factors
MeSH terms
Diagnosis, Differential, Humans, Hypolipoproteinemias, Cholesterol, HDL, Syndrome, Dyslipidemias

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