Familial hypercholesterolemia (FH) is one of the most common genetic disorders in humans.
It is an extremely atherogenic metabolic disorder characterized by lifelong elevations of
circulating LDL-C levels often leading to premature cardiovascular events. In this review, we
discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in
four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning the FH phenotype as well as the
most recent in vitro experimental approaches used to investigate molecular defects affecting …