Abstract
Homozygous familial hyperchoslterolemia is a rare genetic disorder with extremely elevated low-denstiy lipoprotein cholesterol levels, and is associated with prematura atherosclerotic cardiovascular disease in early childhood. A crucial therapeutic measure is to attempt aggressive and adequate reduction of LDL-C levels, thereby delaying the onset or manifestation of ASKVO.
Therapeutic decisions are based on LDL-C levels. However, it is problematic how to achieve this goal in patients with HoFH, particulalarly where LDL-C levels are extremely high or when there is an inadequate response to treatmnet with, for example, statins and other medications where the mechanism of action rewuires functional LDL receptors.
Fortunately, the therapeutic options for HoFH have expnaded