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Rader - Figure 14 - Genetic testing for severe hypercholesterolemia

The question at this point is, Might knowledge of the specific mutation or mutations in a patient lead to better personalization of LDL lowering therapy?  In other words, what might be some of the rationales for deciding to perform genetic testing in patients with severe hypercholesterolemia?  There are at least two broad categories where physicians might want to consider genetic testing: 

  • to optimize the therapeutic approach to the patient;
     
  • to facilitate the cascade screening of the family. 

We don't know yet whether knowledge of the specific mutation or mutations in individual patients will allow us to personalize LDL-lowering therapy, but in the next Figures this is the question to be addressed.

Rader J Clin Lipidol. 2012;
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