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Editor's Note
May 26, 2021

Knowing More Than the Knowns in Familial Hypercholesterolemia

Author Affiliations
  • 1Cardiovascular Research Center, Massachusetts General Hospital, Boston
  • 2Department of Medicine, Harvard Medical School, Boston, Massachusetts
  • 3Program in Medical and Population Genetics and the Cardiovascular Disease Initiative, Broad Institute of Harvard and MIT, Cambridge, Massachusetts
  • 4Associate Editor, JAMA Cardiology
  • 5Center for Genetic Medicine, Northwestern University, Chicago, Illinois
  • 6Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • 7Associate Editor for Translational Science, JAMA Cardiology
JAMA Cardiol. Published online May 26, 2021. doi:10.1001/jamacardio.2021.1458

Not all genetic testing is the same, and interpretation of genetic testing gains accuracy when a patient’s ancestry is considered. In this issue of JAMA Cardiology, Sturm and colleagues1 explore these issues for familial hypercholesterolemia (FH) genetic testing.

The value of genetic testing for FH has been questioned because severe hypercholesterolemia (ie, low-density lipoprotein cholesterol [LDL-C] >190 mg/dL; to convert to millimoles per liter, multiply by 0.0259), regardless of causative mechanism, merits LDL-C lowering with statins. The availability of costly nonstatin medications has bolstered genetic testing, since results can inform the need for these medications. Furthermore, FH mutations associate with increased coronary artery disease risk even among individuals matched for LDL-C concentrations.2 Classic clinical criteria for FH have become less sensitive, given trends in statin use and saturated fat intake and imprecise family histories. A recent expert panel recommended offering FH genetic testing to individuals of any age in whom FH is clinically strongly suspected.3

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