Pathogenesis 가 매우 중요
FH is a disorder of absent or grossly malfunctioning low-density lipoprotein (LDL) receptors. The LDL receptor, also known as the B,E receptor, is the primary determinant of hepatic LDL uptake, which normally processes approximately 70% of circulating LDL. The ligand on LDL that binds to the receptor is apolipoprotein (apo) B-100. The LDL receptor also binds another ligand, apoE, which is found on most lipoproteins other than LDL. They include very low-density lipoprotein, chylomicrons and their remnants, and a subclass of high-density lipoprotein (HDL). The LDL receptor binds apoE with higher affinity than apoB-100, and some mutations in the receptor may spare binding to apoE.