Reverse Cholesterol Transport Dysfunction Is a Feature of Familial Hypercholesterolemia

We seek to establish whether high-density lipoprotein HDL metabolism and reverse cholesterol transport (RCT) impairment is an intrinsic feature of familial hypercholesterolemia (FH). RCT from macrophages (m-RCT), a vascular cell type major influence on atherosclerosis, impaired in FH due defective low-density receptor (LDLR) function via both the HDL- LDL-mediated pathways. Potential mechanisms include metabolism, which linked increased LDL levels, as well cellular unesterified LDL, presents catabolism. dysfunction consistently associated with mutation-positive decreased levels remodeling LDLR function. It remains be explored these alterations are also present less well-characterized forms FH, such cases no identified mutations, they fully corrected by current standard treatments.