Genetic testing in hyperlipidemia

Cardiol Clin. 2015 May;33(2):267-75. doi: 10.1016/j.ccl.2015.02.006.


Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.

Keywords: Dyslipidemia; Familial hypercholesterolemia; Genetic testing; Hereditary lipid disorder.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Markers / genetics*
  • Genetic Testing / methods*
  • Humans
  • Hyperlipidemias* / blood
  • Hyperlipidemias* / diagnosis
  • Hyperlipidemias* / genetics
  • Lipids / blood*
  • Risk Assessment*


  • Genetic Markers
  • Lipids