Familial Hypercholesterolemia Among Young Adults With Myocardial Infarction

J Am Coll Cardiol. 2019 May 21;73(19):2439-2450. doi: 10.1016/j.jacc.2019.02.059.


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.

Keywords: PCSK9; acute coronary syndrome; ezetimibe; familial hypercholesterolemia; myocardial infarction; prevention; statins; young adult.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cholesterol, LDL / blood
  • Female
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use*
  • Hyperlipoproteinemia Type II / blood
  • Hyperlipoproteinemia Type II / drug therapy
  • Hyperlipoproteinemia Type II / epidemiology*
  • Male
  • Prevalence
  • Registries
  • Retrospective Studies
  • Risk Factors
  • ST Elevation Myocardial Infarction / blood
  • ST Elevation Myocardial Infarction / epidemiology*
  • United States / epidemiology
  • Young Adult


  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors