Hypercholesterolemia
Positive Monogenic Risk
Monogenic risk for Hypercholesterolemia results from a pathogenic variant(s) in any of the following genes: LDLR, APOB, PCSK9, and LDLRAP1. For participants with monogenic risk, recommendations include:
- Referral to a genetic counselor.
- Check a lipid profile and Lp(a) level.
- Consider initiation of lipid-lowering therapy (e.g., statin):
- Reduce LDL-cholesterol using maximally tolerated statin therapy +/- ezetimibe; PCSK9 inhibitors may be considered if target LDL-C is not achieved despite maximal statin dose.
- Follow the 2018 AHA/ACC Guideline on the Management of Blood Cholesterol guidance for treating Familial Hypercholesterolemia.
- Consider referral to a lipid specialist.
- Emphasize a heart-healthy lifestyle.
High PRS
A high PRS is associated with a 3 to 4 times increased risk for developing Hypercholesterolemia relative to a person not in the high-risk category. The data is based on populations of African, European, Hispanic/Latino and Asian descent. Information is insufficient or not available for populations of other descent. For participants with a high PRS, recommendations include:
- Check lipid levels.
- Consider initiation of lipid-lowering therapy (e.g., statin).
- Consider referral to a lipid specialist.
- Emphasize a heart-healthy lifestyle.