title: Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes.
abstract: OBJECTIVE
  We aimed to assess the prevalence and management of clinical familial hypercholesterolaemia (FH) among patients with acute coronary syndrome (ACS).
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ambulatory Care and Community Medicine, University of Lausanne, Rue du Bugnon 44, Lausanne CH-1011, Switzerland david.nanchen@chuv.ch.
authors.forename: David
authors.initials: D
authors.lastname: Nanchen
authors.affiliation: Division of Cardiology, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: Baris
authors.initials: B
authors.lastname: Gencer
authors.affiliation: Department of Ambulatory Care and Community Medicine, University of Lausanne, Rue du Bugnon 44, Lausanne CH-1011, Switzerland.
authors.forename: Reto
authors.initials: R
authors.lastname: Auer
authors.affiliation: Department of Cardiology, University Hospital Bern, Bern, Switzerland.
authors.forename: Lorenz
authors.initials: L
authors.lastname: Räber
authors.affiliation: Department of Cardiology, University Hospital Bern, Bern, Switzerland.
authors.forename: Giulio G
authors.initials: GG
authors.lastname: Stefanini
authors.affiliation: Department of Cardiology, University Heart Center, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
authors.forename: Roland
authors.initials: R
authors.lastname: Klingenberg
authors.affiliation: Department of Cardiology, University Heart Center, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
authors.forename: Christian M
authors.initials: CM
authors.lastname: Schmied
authors.affiliation: Department of Ambulatory Care and Community Medicine, University of Lausanne, Rue du Bugnon 44, Lausanne CH-1011, Switzerland.
authors.forename: Jacques
authors.initials: J
authors.lastname: Cornuz
authors.affiliation: Department of Cardiology, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: Olivier
authors.initials: O
authors.lastname: Muller
authors.affiliation: Department of Cardiology, Lausanne University Hospital, Lausanne, Switzerland.
authors.forename: Pierre
authors.initials: P
authors.lastname: Vogt
authors.affiliation: Department of Clinical Research, Institute of Social and Preventive Medicine and Clinical Trials Unit, University of Bern, Bern, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Jüni
authors.affiliation: Department of Cardiology, University Heart Center, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
authors.forename: Christian M
authors.initials: CM
authors.lastname: Matter
authors.affiliation: Department of Cardiology, University Hospital Bern, Bern, Switzerland.
authors.forename: Stephan
authors.initials: S
authors.lastname: Windecker
authors.affiliation: Department of Cardiology, University Heart Center, University Hospital Zurich and University of Zurich, Zurich, Switzerland.
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Lüscher
authors.affiliation: Division of Cardiology, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: François
authors.initials: F
authors.lastname: Mach
authors.affiliation: Department of General Internal Medicine, University Hospital of Bern, Bern, Switzerland.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Rodondi
mesh_terms: D054058:Acute Coronary Syndrome / Q000150:complications* / Q000453:epidemiology; D000704:Analysis of Variance; D050197:Atherosclerosis / Q000453:epidemiology / Q000517:prevention & control; D008078:Cholesterol, LDL / Q000187:drug effects; D005260:Female; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000188:drug therapy* / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases / Q000037:antagonists & inhibitors; D011787:Quality of Health Care; D012697:Serine Endopeptidases; D013557:Switzerland
chemical_list: D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; C472125:PCSK9 protein, human; D000071449:Proprotein Convertase 9; D043484:Proprotein Convertases; D012697:Serine Endopeptidases
keywords: Familial hypercholesterolaemia; acute coronary syndrome; cardiovascular prevention; premature atherosclerosis; quality of care