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

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Differential diagnosis of familial high density lipoprotein deficiency syndromes

von Eckardstein, Arnold·2006·Atherosclerosis

DOI 10.1016/j.atherosclerosis.2005.10.033

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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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Authors: von Eckardstein, A.
Venue: Atherosclerosis
Publisher: Elsevier BV
Published: 2006-06
Volume: 186
Issue: 2
Pages: 231-239
ISSN: 0021-9150 (ISSN-L)
DOI: 10.1016/j.atherosclerosis.2005.10.033
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Atherosclerosis (publishedVersion)
PubMed (publishedVersion)
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, 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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Differential diagnosis of familial high density lipoprotein deficiency syndromes

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