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.
Keywords
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Article info
Publication history
Published online: December 12, 2005
Accepted:
October 19,
2005
Received in revised form:
July 22,
2005
Received:
June 24,
2005
Identification
Copyright
© 2005 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
