title: Prevalence of heterozygous familial hypercholesterolaemia and its impact on long-term prognosis in patients with very early ST-segment elevation myocardial infarction in the era of statins.
abstract: Familial hypercholesterolaemia (FH) is an important cause of early onset coronary artery disease. We assessed the prevalence of clinical heterozygous FH (HeFH) among patients with very early ST-segment elevation myocardial infarction (STEMI), its management and its impact on long-term prognosis in the era of widespread utilization of statins.
  
  
  
  We recruited prospectively 320 consecutive patients who had survived their first STEMI ≤35 years of age. Using the Dutch Lipid Clinic Network algorithm patients having HeFH (possible, probable or definite) were identified.
  
  
  
  Sixty-five patients (20.3%) had definite/probable HeFH and 163 patients (50.9%) had possible FH. Two years after discharge among 51 patients with definite/probable HeFH and available lipid levels, 43 (84.3%) were taking statins of whom 10 (23.3%) were on high-intensity statin therapy but only 1 (2.3%) of the statin-treated patients had LDL cholesterol levels <1.8 mmol/L (70 mg/dL). After a median follow-up of 9.1 years, major adverse coronary events (MACE) occurred in 99 (38.8%) of 255 patients with available follow-up information. Definite/probable HeFH was associated with an excess risk for recurrence of MACE independently of statin use, continuation of smoking after the STEMI, hypertension, diabetes mellitus, and sex (hazard ratio = 1.615, 95% confidence interval, 1.038 to 2.512, p = 0.03).
  
  
  
  One out of five patients who develop STEMI ≤35 years of age has definite/probable HeFH and despite the use of statins there is a therapeutic gap and a high recurrence rate of cardiac events during long-term follow-up.
authors.affiliation: Second Department of Cardiology, University General Hospital Attikon, Athens, Greece. Electronic address: lrallidis@gmail.com.
authors.forename: Loukianos S
authors.initials: LS
authors.lastname: Rallidis
authors.affiliation: Second Department of Cardiology, University General Hospital Attikon, Athens, Greece.
authors.forename: Andreas S
authors.initials: AS
authors.lastname: Triantafyllis
authors.affiliation: Second Department of Cardiology, University General Hospital Attikon, Athens, Greece.
authors.forename: Georgios
authors.initials: G
authors.lastname: Tsirebolos
authors.affiliation: Second Department of Cardiology, University General Hospital Attikon, Athens, Greece.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Katsaras
authors.affiliation: Department of Nutrition and Dietetics, Harokopio University, Athens, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Rallidi
authors.affiliation: Department of Clinical Biochemistry, University General Hospital Attikon, Athens, Greece.
authors.forename: Paraskevi
authors.initials: P
authors.lastname: Moutsatsou
authors.affiliation: Second Department of Cardiology, University General Hospital Attikon, Athens, Greece.
authors.forename: Jonh
authors.initials: J
authors.lastname: Lekakis
mesh_terms: D000328:Adult; D000465:Algorithms; D008078:Cholesterol, LDL / Q000097:blood; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D015995:Prevalence; D011379:Prognosis; D011446:Prospective Studies; D012307:Risk Factors; D000072657:ST Elevation Myocardial Infarction / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors
keywords: Familial hypercholesterolaemia; Premature myocardial infarction; Statins