Erschienen in:
01.06.2021 | Vascular Biology (H. Pownall, Section Editor)
Reverse Cholesterol Transport Dysfunction Is a Feature of Familial Hypercholesterolemia
verfasst von:
Joan Carles Escolà-Gil, Noemí Rotllan, Josep Julve, Francisco Blanco-Vaca
Erschienen in:
Current Atherosclerosis Reports
|
Ausgabe 6/2021
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Abstract
Purpose of Review
We seek to establish whether high-density lipoprotein HDL metabolism and reverse cholesterol transport (RCT) impairment is an intrinsic feature of familial hypercholesterolemia (FH).
Recent Findings
RCT from macrophages (m-RCT), a vascular cell type of major influence on atherosclerosis, is impaired in FH due to defective low-density lipoprotein receptor (LDLR) function via both the HDL- and LDL-mediated pathways. Potential mechanisms include impaired HDL metabolism, which is linked to increased LDL levels, as well as the increased transport of cellular unesterified cholesterol to LDL, which presents a defective catabolism.
Summary
RCT dysfunction is consistently associated with mutation-positive FH linked to decreased HDL levels as well as impaired HDL remodeling and LDLR function. It remains to be explored whether these alterations are also present in less well-characterized forms of FH, such as cases with no identified mutations, and whether they are fully corrected by current standard treatments.