Rader - Figure 21 - Patients with mutations in both LDL receptor alleles respond poorly to therapies that work through LDL receptor upregulation
But what about patients with mutations in both LDL receptor alleles, ie, homozygous FH (or compound heterozygous FH, strictly defined as two different mutations in each of the LDL receptor alleles). These patients simply don't respond as well to the standard LDL receptor up-regulating therapies mentioned in the previous Figure, because drugs that work through the LDL receptor simply don\'t have the opportunity to work as effectively due to the lack of functional LDL receptors.
Rader
J Clin Lipidol.
2012;
