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Rader - Figure 31 - Questions

So this really leads, I think, to questions about the value of sequencing in severe hypercholesterolemia that are not currently known in terms of the answers.  Are family members more likely to be treated appropriately now that their specific mutation is known? We could certainly make a case that that might be true, but more evidence would be needed to really confirm that that is, in fact, the case. 

Does knowledge of specific causal mutations lead to better compliance with LDL lowering therapy?  Again, it kind of makes sense that if people know they have a specific mutation, say in their LDL receptor, that is causing high LDL that maybe they will be a little more likely to be a little more adherent to their therapy, but again, we really don't know for sure the answer to this question.


Rader J Clin Lipidol. 2012;
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