Familial Hypercholesterolemia Among Young Adults With Myocardial Infarction

Avinainder Singh, Ankur Gupta, Bradley L. Collins, Arman Qamar, Keri L. Monda, David Biery, J. Antonio G. Lopez, Sarah D. de Ferranti, Jorge Plutzky, Christopher P. Cannon, James L. Januzzi, Marcelo F. Di Carli, Khurram Nasir, Deepak L. Bhatt, Ron Blankstein

Research output: Contribution to journalArticlepeer-review

53 Scopus citations


Background: There are limited data on the prevalence and treatment of familial hypercholesterolemia (FH) among U.S. adults who experience a myocardial infarction (MI) at a young age. Objectives: This study aimed to evaluate the prevalence of clinically defined FH and examine the rates of statin utilization and low-density lipoprotein cholesterol (LDL-C) achieved 1-year post MI. Methods: The YOUNG-MI registry is a retrospective cohort study that includes patients who experience an MI at or below age 50 years between 2000 and 2016 at 2 academic centers. Probable or definite FH was defined by the Dutch Lipid Clinic criteria. Outcomes included the proportion of patients classified as probable or definite FH, use of lipid-lowering therapy, and LDL-C achieved 1-year post MI. Results: The cohort consisted of 1,996 adults with a median age of 45 years; 19% were women, and 54% had ST-segment elevation MI. Probable/definite FH was present in 180 (9%) of whom 42.8% were not on statins prior to their MI. Of the 1,966 patients surviving until hospital discharge, 89.4% of FH patients and 89.9% of non-FH patients were discharged on statin therapy (p = 0.82). Among FH patients, 63.3% were discharged on high-intensity statin compared with 48.4% for non-FH patients (p < 0.001). At 1-year follow-up, the percent reduction in LDL-C among FH patients was −44.4% compared with −34.5% (p = 0.006) in non-FH patients. The proportion of patients with LDL-C ≥70 mg/dl was higher among FH patients (82.2%) compared with non-FH patients (64.5%; p < 0.001). Conclusions: Clinically defined FH was present in nearly 1 of 10 patients with MI at a young age. Only two-thirds of FH patients were discharged on high-intensity statin therapy, and the vast majority had elevated LDL-C at 1 year. These findings reinforce the need for more aggressive lipid-lowering therapy in young FH and non-FH patients post-MI.

Original languageEnglish (US)
Pages (from-to)2439-2450
Number of pages12
JournalJournal of the American College of Cardiology
Issue number19
StatePublished - May 21 2019


  • PCSK9
  • acute coronary syndrome
  • ezetimibe
  • familial hypercholesterolemia
  • myocardial infarction
  • prevention
  • statins
  • young adult

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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