Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels

J Genet Couns. 2024 Mar 28. doi: 10.1002/jgc4.1889. Online ahead of print.


APOE codes for apolipoprotein E (ApoE), which plays an important role in lipid and lipoprotein metabolism and homeostasis of tissue lipid content. Several variants in APOE have been associated with inherited dyslipidemias, and a subsequent increased risk of developing premature coronary artery disease (CAD). However, these variants and their impact on risk can be thought of on a spectrum, with some being more monogenic in nature, and others contributing in a polygenic/multifactorial manner. Despite these known associations, there is often hesitancy around ordering APOE genetic testing due to the association with Alzheimer's disease. This paper aims to catalyze discussion around APOE testing and counseling strategies, highlight the nuances around this topic, and advocate for inclusion of APOE testing on dyslipidemia panels when an inherited dyslipidemia is suspected.

Keywords: APOE; Alzheimer's disease; genetic counseling; genetic testing; hereditary dyslipidemia.

Publication types

  • Case Reports