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• W2072777730 abstract "1. EditorialFamilial hypercholesterolaemia (FH) is a co-dominantly inherited condition that markedly elevates plasma levels of low-density lipoprotein (LDL) cholesterol and induces premature coronary artery disease (CAD) [[1]Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar]. Risk of CAD in FH may be significantly diminished through early detection and treatment of hypercholesterolaemia [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar]. However, FH remains under-detected and under-treated worldwide [[2]Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar].International guidelines recommend diverse screening strategies for FH, a potentially highly effective one being identification of index cases among patients with early CAD, with subsequent cascade testing of family members [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar]. The frequency and management of FH among patients with CAD has not, however, been adequately documented and requires further evaluation to inform future planning and policy for the care of FH.The EUROASPIRE-IV Investigators tested the prevalence of FH using modified Dutch Lipid Clinic Network Criteria (DLCNC) in 7044 patients (male:female ratio = 3.12:1) aged 18–80 years with CAD in 24 countries in Europe [[4]De Backer G. Besseling J. Chapman J. et al.Prevalence and management of familial hypercholesterolaemia in coronary patients: an analysis of EUROASPIRE IV.Atherosclerosis. 2015; 241: 169-175Abstract Full Text Full Text PDF PubMed Scopus (122) Google Scholar]. The age-standardized prevalence of probable/definite FH was 8.3% and 20% among those aged less than 50 years. Overall, FH was apparently more common in women than men (11.1% vs 7.5%). There was wide variation in the prevalence of FH among countries, the lowest in Finland (3.4%) and the highest in Bosnia Herzegovina (20.8%). The prevalence of non-cholesterol CAD risk factors was high, with smoking, low HDL-cholesterol and high triglyceride being significantly more common in patients with FH than those without FH. Blood pressure and diabetes were not well controlled in about 40% of the FH patients and 25% were still smoking. High intensity statins were used by only 55% of the FH patients, but a greater proportion were taking aspirin and beta blockers (90%) and angiotensin-converting-enzyme inhibitors or angiotensin II receptor blockers (75%). These data emphasize that FH is common among CAD patients and foreshadow the major challenges facing the management of such patients in Europe and, by extension, the rest of the world.How accurate and representative are these data of the status of FH in Europe? The use of a ‘probable’ definition FH by the DLCNC could have over-inflated the frequency of the condition, noting that the prevalence of ‘definite’ FH was 1.1%. Adjustment of plasma LDL cholesterol for statins might have also contributed to error in the diagnosis and misclassified patients [[5]Besseling J. Kindt I. Hof M. et al.Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: a study of a cohort of 14,000 mutation carriers.Atherosclerosis. 2014; 233: 219-223Abstract Full Text Full Text PDF PubMed Scopus (150) Google Scholar], acknowledging the wide inter-individual variability in the response to statins [[6]DeGorter M.K. Tirona R.G. Schwarz U.I. et al.Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentrations in routine clinical care.Circ. Cardiovasc. Genet. 2013; 6: 400-408Crossref PubMed Scopus (136) Google Scholar]. Whole exome sequencing of patients with premature CAD shows that only 2% have LDL receptor mutations [[7]Do R. Stitziel N.O. Won H.-H. et al.Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.Nature. 2015; 518: 102-106Crossref PubMed Scopus (470) Google Scholar]. Since genetic testing for FH was not undertaken in EUROASPIRE-IV, it is possible that a significant proportion of individuals had hereditary elevation of liporotein(a) [[8]Nordestgaard B.G. Chapman M.J. Ray K. et al.Lipoprotein(a) as a cardiovascular risk factor: current status.Eur. Heart J. 2010; 31: 2844-2853Crossref PubMed Scopus (1215) Google Scholar] and/or familial combined hyperlipidaemia [[9]Brouwers M.C. van Greevenbroek M.M. Stehouwer C.D. et al.The genetics of familial combined hyperlipidaemia.Nat. Rev. Endocrinol. 2012; 8: 352-362PubMed Google Scholar]. The latter accords with the high prevalence of obesity, diabetes and hypertriglyceridemia in the FH cohort. Recent evidence shows that polygenic hypercholesterolaemia can mimic FH, but can be distinguished from it by a high ‘cholesterol gene score’ [[10]Talmud P.J. Futema M. Humphries S.E. The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.Curr. Opin. Lipidol. 2014; 25: 274-281Crossref PubMed Scopus (30) Google Scholar] relating to high frequency, small effect size cholesterol raising alleles. Finally, the possibility of recurrent fatal myocardial infarction in the period of assessment between six months to three years after the first coronary event might have excluded more patients with FH, especially men, and could have led to an underestimation of the prevalence of the condition [[4]De Backer G. Besseling J. Chapman J. et al.Prevalence and management of familial hypercholesterolaemia in coronary patients: an analysis of EUROASPIRE IV.Atherosclerosis. 2015; 241: 169-175Abstract Full Text Full Text PDF PubMed Scopus (122) Google Scholar].As anticipated, the prevalence of FH among coronary patients reported in the literature is disparate [11Patterson D. Slack J. Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives.Lancet. 1972; 299: 393-399Abstract Scopus (82) Google Scholar, 12Goldstein J.L. Hazzard W.R. Schrott H.G. et al.Hyperlipidemia in coronary heart disease I. Lipid levels in 500 survivors of myocardial infarction.J. Clin. Invest. 1973; 52: 1533Crossref PubMed Scopus (447) Google Scholar, 13Nikkilä E. Aro A. Family study of serum lipids and lipoproteins in coronary heart-disease.Lancet. 1973; 301: 954-959Abstract Scopus (223) Google Scholar, 14Koivisto U.M. Hamalainen L. Taskinen M.R. et al.Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.J. Lipid Res. 1993; 34: 269-277PubMed Google Scholar, 15Dorsch M.F. Lawrance R.A. Durham N.P. et al.Familial hypercholesterolaemia is underdiagnosed after AMI.Br. Med. J. 2001; 322: 111Crossref PubMed Google Scholar, 16Bates T.R. Burnett J.R. van Bockxmeer F.M. et al.Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology.Heart Lung Circ. 2008; 17: 411-413Abstract Full Text Full Text PDF PubMed Scopus (39) Google Scholar, 17Rallidis L.S. Lekakis J. Panagiotakos D. et al.Long-term prognostic factors of young patients (≤35 years) having acute myocardial infarction: the detrimental role of continuation of smoking.Eur. J. Cardiovasc. Prev. Rehabil. 2008; 15: 567-571Crossref PubMed Scopus (43) Google Scholar, 18Wiesbauer F. Blessberger H. Azar D. et al.Familial-combined hyperlipidaemia in very young myocardial infarction survivors (≤40 years of age).Eur. Heart J. 2009; 30: 1073-1079Crossref PubMed Scopus (81) Google Scholar, 19Yudi M. Omera L. McCubbery N. et al.Suboptimal consideration and management of potential familial hypercholesterolaemia in patients with suspected premature coronary artery disease.Singap. Med. J. 2012; 53: 174-178PubMed Google Scholar, 20Wald D.S. Bangash F.A. Bestwick J.P. Prevalence of DNA-confirmed familial hypercholesterolaemia in young patients with myocardial infarction.Eur. J. Intern. Med. 2015; 26: 127-130Abstract Full Text Full Text PDF PubMed Scopus (31) Google Scholar] (Table 1). Differences may be due to variation in diagnostic criteria and to population bias, particularly relating to the age related definition for the onset of CAD. The EUROASPIRE-IV study is the largest reported to date, with the point prevalence for FH generally falling within the 95% confidence limits of the data from many other studies. Investigations employing genetic testing have found lower prevalences of FH [7Do R. Stitziel N.O. Won H.-H. et al.Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.Nature. 2015; 518: 102-106Crossref PubMed Scopus (470) Google Scholar, 20Wald D.S. Bangash F.A. Bestwick J.P. Prevalence of DNA-confirmed familial hypercholesterolaemia in young patients with myocardial infarction.Eur. J. Intern. Med. 2015; 26: 127-130Abstract Full Text Full Text PDF PubMed Scopus (31) Google Scholar], consistent with the notion that not all mutations that cause FH are known [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar] and that separate inherited lipid disorders noted above can mimic the condition [8Nordestgaard B.G. Chapman M.J. Ray K. et al.Lipoprotein(a) as a cardiovascular risk factor: current status.Eur. Heart J. 2010; 31: 2844-2853Crossref PubMed Scopus (1215) Google Scholar, 9Brouwers M.C. van Greevenbroek M.M. Stehouwer C.D. et al.The genetics of familial combined hyperlipidaemia.Nat. Rev. Endocrinol. 2012; 8: 352-362PubMed Google Scholar, 10Talmud P.J. Futema M. Humphries S.E. The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.Curr. Opin. Lipidol. 2014; 25: 274-281Crossref PubMed Scopus (30) Google Scholar]. The significantly higher prevalence of FH in women than men is a priori unanticipated. Given the cross-sectional study design, the finding is probably spurious and could relate to the older age for onset of CAD employed to diagnose FH in women using the DLCNC, as well as to the selective survival of women with FH, noting the marked gender differences in susceptibility of FH patients to early onset CAD [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar]. The wide variation in the frequency FH among European countries remains unaccounted for, but may relate to sampling conditions, variation in the selection of centres, and to potential errors incurred from LDL cholesterol adjustments based on the perceived statin regimen [[4]De Backer G. Besseling J. Chapman J. et al.Prevalence and management of familial hypercholesterolaemia in coronary patients: an analysis of EUROASPIRE IV.Atherosclerosis. 2015; 241: 169-175Abstract Full Text Full Text PDF PubMed Scopus (122) Google Scholar]. Statin correction factors for LDL cholesterol remain to be formally validated. The apparent low prevalence of FH among CAD patients in Finland is at variance with a higher frequency reported in another study employing genetic testing [[14]Koivisto U.M. Hamalainen L. Taskinen M.R. et al.Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.J. Lipid Res. 1993; 34: 269-277PubMed Google Scholar].Table 1Published data on the prevalence of FH in individuals with early onset CAD and in the EUROASPIRE-IV study.First author, yearCountry/RegionnAgePrevalenceDiagnostic testPatterson, 1972 [11]Patterson D. Slack J. Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives.Lancet. 1972; 299: 393-399Abstract Scopus (82) Google ScholarUnited Kingdom193<603%Clinical/cholesterolGoldstein, 1973 [12]Goldstein J.L. Hazzard W.R. Schrott H.G. et al.Hyperlipidemia in coronary heart disease I. Lipid levels in 500 survivors of myocardial infarction.J. Clin. Invest. 1973; 52: 1533Crossref PubMed Scopus (447) Google ScholarUSA1450<604%Clinical/cholesterolNikkila, 1973 [13]Nikkilä E. Aro A. Family study of serum lipids and lipoproteins in coronary heart-disease.Lancet. 1973; 301: 954-959Abstract Scopus (223) Google ScholarFinland775<506%Clinical/cholesterolKoivisto, 1993 [14]Koivisto U.M. Hamalainen L. Taskinen M.R. et al.Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.J. Lipid Res. 1993; 34: 269-277PubMed Google ScholarFinland150<459%Genetic (common LDLR mutations only)Dorsch, 2001 [15]Dorsch M.F. Lawrance R.A. Durham N.P. et al.Familial hypercholesterolaemia is underdiagnosed after AMI.Br. Med. J. 2001; 322: 111Crossref PubMed Google ScholarUnited Kingdom292<6012%Clinical/cholesterolBates, 2008 [16]Bates T.R. Burnett J.R. van Bockxmeer F.M. et al.Detection of familial hypercholesterolaemia: a major treatment gap in preventative cardiology.Heart Lung Circ. 2008; 17: 411-413Abstract Full Text Full Text PDF PubMed Scopus (39) Google ScholarAustralia199<602.1%Clinical/cholesterolRallidis, 2008 [17]Rallidis L.S. Lekakis J. Panagiotakos D. et al.Long-term prognostic factors of young patients (≤35 years) having acute myocardial infarction: the detrimental role of continuation of smoking.Eur. J. Cardiovasc. Prev. Rehabil. 2008; 15: 567-571Crossref PubMed Scopus (43) Google ScholarGreece135<3519%Clinical/cholesterolWiesbauer, 2009 [18]Wiesbauer F. Blessberger H. Azar D. et al.Familial-combined hyperlipidaemia in very young myocardial infarction survivors (≤40 years of age).Eur. Heart J. 2009; 30: 1073-1079Crossref PubMed Scopus (81) Google ScholarAustria302<408%Clinical/cholesterolYudi, 2012 [19]Yudi M. Omera L. McCubbery N. et al.Suboptimal consideration and management of potential familial hypercholesterolaemia in patients with suspected premature coronary artery disease.Singap. Med. J. 2012; 53: 174-178PubMed Google ScholarAustralia201<601.4%Clinical/cholesterolWald, 2015 [20]Wald D.S. Bangash F.A. Bestwick J.P. Prevalence of DNA-confirmed familial hypercholesterolaemia in young patients with myocardial infarction.Eur. J. Intern. Med. 2015; 26: 127-130Abstract Full Text Full Text PDF PubMed Scopus (31) Google ScholarUnited Kingdom231<501.3%Genetic (common LDLR mutations only)De Backer, 2015 [4]De Backer G. Besseling J. Chapman J. et al.Prevalence and management of familial hypercholesterolaemia in coronary patients: an analysis of EUROASPIRE IV.Atherosclerosis. 2015; 241: 169-175Abstract Full Text Full Text PDF PubMed Scopus (122) Google ScholarEurope7044<808.3%Clinical/cholesterol2212<6015.4% Open table in a new tab That CAD risk factors were common among FH patients concurs with other reports [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar]. While the use of cardioprotective drugs including statins was high, only 55% of the FH patients were taking high intensity statins, contrary to recommendations [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar]. While data on treatment to LDL cholesterol targets were not apparently reported, one would anticipate from other studies that a significant proportion of patients did not attain an LDL cholesterol ≤2.5 mmol/L [[21]Pijlman A.H. Huijgen R. Verhagen S.N. et al.Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands.Atherosclerosis. 2010; 209: 189-194Abstract Full Text Full Text PDF PubMed Scopus (228) Google Scholar]. This relates to the typically marked elevation in pre-treatment LDL cholesterol levels in FH [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar], as well as to the shortfall in use of high intensity statins in EUROASPIRE-IV. It was also paradoxical that FH patients had more poorly treated hypertension and continued to smoke and take less exercise than non-FH patients, emphasising the huge gap in coronary prevention.These unique data from European communities should be utilised to increase local, regional and country-specific awareness of FH amongst primary care physicians and cardiologists [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar], and supported by good health economic data to lobby government support for implementing health policy to improve the care of FH [[22]Ademi Z. Watts G.F. Juniper A. et al.A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia.Int. J. Cardiol. 2013; 167: 2391-2396Abstract Full Text Full Text PDF PubMed Scopus (59) Google Scholar]. While identifying FH among patients with CAD is a good starting point for at risk families, the condition needs to be identified and treated before the onset of a coronary event, especially in the young [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar, 3Goldberg A.C. Hopkins P.N. Toth P.P. et al.Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J. Clin. Lipidol. 2011; 5: 133-140Abstract Full Text Full Text PDF PubMed Scopus (550) Google Scholar]. One deficiency of this European report was the lack of demonstration of the value of cascade testing close relatives of indexed cases identified with CAD. While this has been well demonstrated in other settings [23Umans-Eckenhausen M.A.W. Defesche J.C. Sijbrands E.J.G. et al.Review of first 5 years of screening for familial hypercholesterolaemia in The Netherlands.Lancet. 2001; 357: 165-168Abstract Full Text Full Text PDF PubMed Scopus (375) Google Scholar, 24Bell D.A. Pang J. Burrows S. et al.Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: an Australian experience.Atherosclerosis. 2015; 239: 93-100Abstract Full Text Full Text PDF PubMed Scopus (54) Google Scholar], cascade testing needs to be closely linked to the detection of FH after a first coronary event. Some European countries are ahead of the pack and have published their extensive experience of the care of FH [25Mata P. Alonso R. Pérez-Jiménez F. Screening for familial hypercholesterolemia: a model for preventive medicine.Rev. Española Cardiol. (English Ed.). 2014; 67: 685-688Crossref PubMed Scopus (22) Google Scholar, 26Béliard S. Carreau V. Carrié A. et al.Improvement in LDL-cholesterol levels of patients with familial hypercholesterolemia: can we do better? Analysis of results obtained during the past two decades in 1669 French subjects.Atherosclerosis. 2014; 234: 136-141Abstract Full Text Full Text PDF PubMed Scopus (46) Google Scholar, 27Descamps O.S. Tenoutasse S. Stephenne X. et al.Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization.Atherosclerosis. 2011; 218: 272-280Abstract Full Text Full Text PDF PubMed Scopus (132) Google Scholar, 28Češka R. Vrablík M. Altschmiedová T. et al.Familial hypercholesterolemia-past and present. My experiences and findings in our group of patients with familial hypercholesterolemia.Vnitr. Lek. 2014; 60: 963-969PubMed Google Scholar, 29Mundal L. Sarancic M. Ose L. et al.Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992–2010.J. Am. Heart Assoc. 2014; 3: e001236Crossref Scopus (87) Google Scholar, 31National Institute for Health and Clinical Excellence and The National Collaborating Centre for Primary Care NICE Clinical Guideline 71: Identification and Management of Familial Hypercholesterolaemia.2008Google Scholar, 30Hadfield S.G. Horara S. Starr B.J. et al.Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project.Ann. Clin. Biochem. 2009; 46: 24-32Crossref PubMed Scopus (61) Google Scholar].European and international experts have published coherent guidance on the detection and management of FH [1Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar, 2Nordestgaard B. Chapman M. Humphries S. et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Eur. Heart J. 2013; 34: 3478-3490Crossref PubMed Scopus (1739) Google Scholar]. The European Atherosclerosis Society aspires to lead the field and has recently launched a major international initiative to empower the medical and patient community to seek change to improve the care of FH [[32]The EAS FH Studies Collaboration (FHSC), http://www.eas-society.org/fhsc.aspx, European Atherosclerosis Society, 2015.Google Scholar].But beyond these high level strategies, what practical advice can be given to clinicians on the basis of the present study and the international recommendations? First, all patients with CAD, especially with onset age less than 60 years, should be considered to have FH until proved otherwise; index cases could should be sought in coronary care and coronary rehabilitation units in both public and private sectors. Second, they should be screened for FH using the modified DLCNC or a simple clinical tool, such as LDL cholesterol >5 mmol/L (with judicious adjustment for statin use) and the presence of family history of premature CAD. Third, the diagnosis of FH should be confirmed by expert clinical evaluation and if available DNA testing; the value of DNA testing is not only to enhance diagnostic accuracy, but also to make cascade testing of family members more cost-effective [[22]Ademi Z. Watts G.F. Juniper A. et al.A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia.Int. J. Cardiol. 2013; 167: 2391-2396Abstract Full Text Full Text PDF PubMed Scopus (59) Google Scholar]. Fourth, all CAD risk factors have to be treated to the highest order possible. Finally, FH remains a public health issue [[1]Watts G.F. Gidding S. Wierzbicki A.S. et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.Int. J. Cardiol. 2014; 171: 309-325Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar], noting the relatively high prevalence reported recently in population studies [33Benn M. Watts G.F. Tybjaerg-Hansen A. et al.Familial hypercholesterolemia in the Danish general population: prevalence, coronary arte" @default.
• W2072777730 created "2016-06-24" @default.
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• W2072777730 creator A5053901502 @default.
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• W2072777730 date "2015-08-01" @default.
• W2072777730 modified "2023-09-25" @default.
• W2072777730 title "Europe aspires to set the record straight on familial hypercholesterolaemia" @default.
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