The Clinical Importance of Differentiating Monogenic Familial Hypercholesterolemia from Polygenic Hypercholesterolemia

Purpose of Review The current review discusses the importance and significance of differentiating monogenic familial hypercholesterolemia (FH) from polygenic hypercholesterolemia for clinical purpose. Recent Findings Consistent scientific evidence have demonstrated that, compared to polygenic hypercholesterolemia, monogenic FH patients are at significantly higher risk for premature coronary heart disease (CHD). This is despite both disease entities having a comparable low-density-lipoprotein cholesterol (LDLC) level. Monogenic FH also has poorer therapeutic response compared to its polygenic counterpart. However, there are no current available clinical management guidelines that stratify hypercholesterolemia patients based on genotype. Monogenic FH patients are at higher risk for CHD with poorer therapeutic response. Thus, genotype testing should be performed when available. There is also an urgency to develop genotype-based clinical guideline that stratify patients on genotype and not only based on traditionally known cardiovascular risk factors.