Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes

Eur Heart J. 2015 Sep 21;36(36):2438-45. doi: 10.1093/eurheartj/ehv289. Epub 2015 Jul 4.


Aims: We aimed to assess the prevalence and management of clinical familial hypercholesterolaemia (FH) among patients with acute coronary syndrome (ACS).

Methods and results: We studied 4778 patients with ACS from a multi-centre cohort study in Switzerland. Based on personal and familial history of premature cardiovascular disease and LDL-cholesterol levels, two validated algorithms for diagnosis of clinical FH were used: the Dutch Lipid Clinic Network algorithm to assess possible (score 3-5 points) or probable/definite FH (>5 points), and the Simon Broome Register algorithm to assess possible FH. At the time of hospitalization for ACS, 1.6% had probable/definite FH [95% confidence interval (CI) 1.3-2.0%, n = 78] and 17.8% possible FH (95% CI 16.8-18.9%, n = 852), respectively, according to the Dutch Lipid Clinic algorithm. The Simon Broome algorithm identified 5.4% (95% CI 4.8-6.1%, n = 259) patients with possible FH. Among 1451 young patients with premature ACS, the Dutch Lipid Clinic algorithm identified 70 (4.8%, 95% CI 3.8-6.1%) patients with probable/definite FH, and 684 (47.1%, 95% CI 44.6-49.7%) patients had possible FH. Excluding patients with secondary causes of dyslipidaemia such as alcohol consumption, acute renal failure, or hyperglycaemia did not change prevalence. One year after ACS, among 69 survivors with probable/definite FH and available follow-up information, 64.7% were using high-dose statins, 69.0% had decreased LDL-cholesterol from at least 50, and 4.6% had LDL-cholesterol ≤1.8 mmol/L.

Conclusion: A phenotypic diagnosis of possible FH is common in patients hospitalized with ACS, particularly among those with premature ACS. Optimizing long-term lipid treatment of patients with FH after ACS is required.

Keywords: Familial hypercholesterolaemia; acute coronary syndrome; cardiovascular prevention; premature atherosclerosis; quality of care.

Publication types

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

MeSH terms

  • Acute Coronary Syndrome / complications*
  • Acute Coronary Syndrome / epidemiology
  • Analysis of Variance
  • Atherosclerosis / epidemiology
  • Atherosclerosis / prevention & control
  • Cholesterol, LDL / drug effects
  • Female
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Hyperlipoproteinemia Type II / complications
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / epidemiology
  • Male
  • Middle Aged
  • Prevalence
  • Proprotein Convertase 9
  • Proprotein Convertases / antagonists & inhibitors
  • Quality of Health Care
  • Serine Endopeptidases
  • Switzerland


  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • PCSK9 protein, human
  • Proprotein Convertase 9
  • Proprotein Convertases
  • Serine Endopeptidases