Heterozygous familial hypercholesterolemia (FH) is an autosomal, dominant disorder of lipoprotein metabolism. The disease is estimated to affect 1:250 of individuals in Western populations [1–3]. Mutations in genes involved in the low-density lipoprotein (LDL) receptor, apolipoprotein B, and proprotein subtilisin kexin 9 pathways lead to a decreased clearance of LDL cholesterol from the circulation, and consequently to elevated total and LDL cholesterol concentrations. The lifelong vascular exposure to high LDL cholesterol concentrations leads to atherosclerosis, the major clinical manifestation of FH.
