메뉴 건너뛰기




Volumn 26, Issue 6, 2015, Pages 475-483

The hinterland of familial hypercholesterolaemia: What do we not know?

Author keywords

cardiovascular disease; cardiovascular disease prevention; ezetimibe; familial hypercholesterolaemia; guideline; proprotein convertase subtilisin kexin 9 inhibitor; statin

Indexed keywords

CHOLESTEROL; EZETIMIBE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIPID; PROPROTEIN CONVERTASE SUBTILISIN KEXIN 9 INHIBITOR; SERINE PROTEINASE INHIBITOR; SIMVASTATIN; UNCLASSIFIED DRUG;

EID: 84957622864     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0000000000000238     Document Type: Review
Times cited : (6)

References (87)
  • 1
    • 0037541585 scopus 로고    scopus 로고
    • A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
    • Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168:1-14.
    • (2003) Atherosclerosis , vol.168 , pp. 1-14
    • Marks, D.1    Thorogood, M.2    Neil, H.A.3    Humphries, S.E.4
  • 2
    • 84890461947 scopus 로고    scopus 로고
    • 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
    • Nordestgaard BG, Chapman MJ, Humphries SE, 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; 34:3478-3490a.
    • (2013) Eur Heart J , vol.34 , pp. 3478-3490a
    • Nordestgaard, B.G.1    Chapman, M.J.2    Humphries, S.E.3
  • 3
    • 84893647246 scopus 로고    scopus 로고
    • Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
    • Watts GF, Gidding S, Wierzbicki AS, et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol 2014; 171:309-325.
    • (2014) Int J Cardiol , vol.171 , pp. 309-325
    • Watts, G.F.1    Gidding, S.2    Wierzbicki, A.S.3
  • 4
    • 84897029732 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia in primary care: Knowledge and practices among general practitioners in Western Australia
    • Bell DA, Garton-Smith J, Vickery A, et al. Familial hypercholesterolaemia in primary care: knowledge and practices among general practitioners in Western Australia. Heart Lung Circ 2014; 23:309-313.
    • (2014) Heart Lung Circ , vol.23 , pp. 309-313
    • Bell, D.A.1    Garton-Smith, J.2    Vickery, A.3
  • 5
    • 84893939616 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: An under-recognized but significant concern in cardiology practice
    • Foody JM. Familial hypercholesterolemia: an under-recognized but significant concern in cardiology practice. Clin Cardiol 2014; 37:119-125.
    • (2014) Clin Cardiol , vol.37 , pp. 119-125
    • Foody, J.M.1
  • 6
    • 84931412438 scopus 로고    scopus 로고
    • The extent of familial hypercholesterolemia instruction in US schools and colleges of medicine, pharmacy, and osteopathic medicine
    • Withycombe B, Winden JC, Hassanyn R, et al. The extent of familial hypercholesterolemia instruction in US schools and colleges of medicine, pharmacy, and osteopathic medicine. J Clin Lipidol 2015; 9:281-288.
    • (2015) J Clin Lipidol , vol.9 , pp. 281-288
    • Withycombe, B.1    Winden, J.C.2    Hassanyn, R.3
  • 7
    • 84923259638 scopus 로고    scopus 로고
    • Systematic detection of familial hypercholesterolaemia in primary healthcare: A community based prospective study of three methods
    • Kirke AB, Barbour RA, Burrows S, et al. Systematic detection of familial hypercholesterolaemia in primary healthcare: a community based prospective study of three methods. Heart Lung Circ 2015; 24:250-256.
    • (2015) Heart Lung Circ , vol.24 , pp. 250-256
    • Kirke, A.B.1    Barbour, R.A.2    Burrows, S.3
  • 10
    • 51249096285 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: Summary of NICE guidance
    • Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008; 337:a1095.
    • (2008) BMJ , vol.337 , pp. a1095
    • Wierzbicki, A.S.1    Humphries, S.E.2    Minhas, R.3
  • 11
    • 0000161902 scopus 로고
    • Expert panel on detection evaluation, and treatment of high blood cholesterol in adults (adult treatment panel II). National Cholesterol Education Program. Second report of the expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (adult treatment panel II)
    • Expert panel on detection evaluation, and treatment of high blood cholesterol in adults (adult treatment panel II). National Cholesterol Education Program. Second report of the expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (adult treatment panel II). Circulation 1994; 89:1333-1445.
    • (1994) Circulation , vol.89 , pp. 1333-1445
  • 12
    • 0035897696 scopus 로고    scopus 로고
    • Expert panel on detection evaluation and treatment of high blood cholesterol in adults (adult treatment panel III). Executive summary of the third report of the National Cholesterol Education Program (NCEP)
    • Expert panel on detection evaluation and treatment of high blood cholesterol in adults (adult treatment panel III). Executive summary of the third report of The National Cholesterol Education Program (NCEP). JAMA 2001; 285:2486-2497.
    • (2001) JAMA , vol.285 , pp. 2486-2497
  • 13
    • 79956267846 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Goldberg AC, Hopkins PN, Toth PP, 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:S1-S8.
    • (2011) J Clin Lipidol , vol.5 , pp. S1-S8
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3
  • 14
    • 79956277910 scopus 로고    scopus 로고
    • Management of familial hypercholesterolemias in adult patients: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Ito MK, McGowan MP, Moriarty PM, National Lipid Association Expert Panel on Familial Hypercholesterolemia. Management of familial hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5:S38-S45.
    • (2011) J Clin Lipidol , vol.5 , pp. S38-S45
    • Ito, M.K.1    McGowan, M.P.2    Moriarty, P.M.3
  • 15
    • 84868628467 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in the danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication
    • Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97:3956-3964.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 3956-3964
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 16
    • 84928243294 scopus 로고    scopus 로고
    • Prevalence and treatment of familial hypercholesterolaemia in Australian communities
    • Watts GF, Shaw JE, Pang J, et al. Prevalence and treatment of familial hypercholesterolaemia in Australian communities. Int J Cardiol 2015; 185:69-71.
    • (2015) Int J Cardiol , vol.185 , pp. 69-71
    • Watts, G.F.1    Shaw, J.E.2    Pang, J.3
  • 17
    • 84903278021 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in China: Prevalence and evidence of underdetection and undertreatment in a community population
    • Shi Z, Yuan B, Zhao D, et al. Familial hypercholesterolemia in China: prevalence and evidence of underdetection and undertreatment in a community population. Int J Cardiol 2014; 174:834-836.
    • (2014) Int J Cardiol , vol.174 , pp. 834-836
    • Shi, Z.1    Yuan, B.2    Zhao, D.3
  • 18
    • 84924366648 scopus 로고    scopus 로고
    • Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: Prevalence, genotype-phenotype relationship, and clinical outcome
    • Sjouke B, Kusters DM, Kindt I, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015; 36:560-565.
    • (2015) Eur Heart J , vol.36 , pp. 560-565
    • Sjouke, B.1    Kusters, D.M.2    Kindt, I.3
  • 19
    • 84941421143 scopus 로고    scopus 로고
    • Screening and Advanced Lipid Phenotyping in Familial Hypercholesterolemia: The Very Large Database of Lipids Study-17 (VLDL-17)
    • Miller PE, Martin SS, Toth PP, et al. Screening and Advanced Lipid Phenotyping in Familial Hypercholesterolemia: The Very Large Database of Lipids Study-17 (VLDL-17). J Clin Lipidol 2015; 9:676-683.
    • (2015) J Clin Lipidol , vol.9 , pp. 676-683
    • Miller, P.E.1    Martin, S.S.2    Toth, P.P.3
  • 20
    • 84968460842 scopus 로고    scopus 로고
    • Familial hypercholesterolemia prevalence of 1.5% in a clinical database of 542 214 patients: Refined risk stratification using apoB:LDL-C ratio
    • Varvel SA, Voros S, Thiselton D, et al. Familial hypercholesterolemia prevalence of 1.5% in a clinical database of 542 214 patients: refined risk stratification using apoB:LDL-C ratio. J Clin Lipidol 2015; 9: 414.
    • (2015) J Clin Lipidol , vol.9 , pp. 414
    • Varvel, S.A.1    Voros, S.2    Thiselton, D.3
  • 21
    • 84929413403 scopus 로고    scopus 로고
    • Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology
    • De Backer G, Besseling J, Chapman J, et al. Prevalence and management of familial hypercholesterolaemia in coronary patients: an analysis of EUROASPIRE IV, a study of the European Society of Cardiology. Atherosclerosis 2015; 241:169-175.
    • (2015) Atherosclerosis , vol.241 , pp. 169-175
    • De Backer, G.1    Besseling, J.2    Chapman, J.3
  • 22
    • 84885644881 scopus 로고    scopus 로고
    • The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: Developing a new framework for future therapies
    • Ooi EM, Barrett PH, Watts GF. The extended abnormalities in lipoprotein metabolism in familial hypercholesterolemia: developing a new framework for future therapies. Int J Cardiol 2013; 168:1811-1818.
    • (2013) Int J Cardiol , vol.168 , pp. 1811-1818
    • Ooi, E.M.1    Barrett, P.H.2    Watts, G.F.3
  • 23
    • 84864602990 scopus 로고    scopus 로고
    • Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: A study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
    • Huijgen R, Kindt I, Defesche JC, Kastelein JJ. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur Heart J 2012; 33:2325-2330.
    • (2012) Eur Heart J , vol.33 , pp. 2325-2330
    • Huijgen, R.1    Kindt, I.2    Defesche, J.C.3    Kastelein, J.J.4
  • 24
    • 33749025102 scopus 로고    scopus 로고
    • Genetic causes of familial hypercholesterolaemia in patients in the UK: Relation to plasma lipid levels and coronary heart disease risk
    • Humphries SE, Whittall RA, Hubbart CS, et al. Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk. J Med Genet 2006; 43:943-949.
    • (2006) J Med Genet , vol.43 , pp. 943-949
    • Humphries, S.E.1    Whittall, R.A.2    Hubbart, C.S.3
  • 25
    • 54349112435 scopus 로고    scopus 로고
    • Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting
    • Civeira F, Jarauta E, Cenarro A, et al. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J Am Coll Cardiol 2008; 52:1546-1553.
    • (2008) J Am Coll Cardiol , vol.52 , pp. 1546-1553
    • Civeira, F.1    Jarauta, E.2    Cenarro, A.3
  • 26
    • 84920507510 scopus 로고    scopus 로고
    • Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries
    • Futema M, Shah S, Cooper JA, et al. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Clin Chem 2015; 61:231-238.
    • (2015) Clin Chem , vol.61 , pp. 231-238
    • Futema, M.1    Shah, S.2    Cooper, J.A.3
  • 27
    • 0037058849 scopus 로고    scopus 로고
    • Lowdensity lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population
    • Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, Defesche JC. Lowdensity lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation 2002; 106:3031-3036.
    • (2002) Circulation , vol.106 , pp. 3031-3036
    • Umans-Eckenhausen, M.A.1    Sijbrands, E.J.2    Kastelein, J.J.3    Defesche, J.C.4
  • 28
    • 0037465809 scopus 로고    scopus 로고
    • Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children
    • Wiegman A, Rodenburg J, de Jongh S, et al. Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children. Circulation 2003; 107:1473-1478.
    • (2003) Circulation , vol.107 , pp. 1473-1478
    • Wiegman, A.1    Rodenburg, J.2    De Jongh, S.3
  • 29
    • 84900529903 scopus 로고    scopus 로고
    • Lipoprotein(a) levels in familial hypercholesterolemia: An important predictor of cardiovascular disease independent of the type of LDL receptor mutation
    • Alonso R, Andres E, Mata N, et al. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. J Am Coll Cardiol 2014; 63:1982-1989.
    • (2014) J Am Coll Cardiol , vol.63 , pp. 1982-1989
    • Alonso, R.1    Andres, E.2    Mata, N.3
  • 30
    • 0028877052 scopus 로고
    • Effects of lowering elevated LDL cholesterol on the cardiovascular risk of lipoprotein(a)
    • Maher VM, Brown BG, Marcovina SM, et al. Effects of lowering elevated LDL cholesterol on the cardiovascular risk of lipoprotein(a). JAMA 1995; 274:1771-1774.
    • (1995) JAMA , vol.274 , pp. 1771-1774
    • Maher, V.M.1    Brown, B.G.2    Marcovina, S.M.3
  • 31
    • 84890904215 scopus 로고    scopus 로고
    • Lipoprotein apheresis in patients with maximally tolerated lipid-lowering therapy, lipoprotein(a)-hyperlipoproteinemia, and progressive cardiovascular disease: Prospective observational multicenter study
    • Leebmann J, Roeseler E, Julius U, et al. Lipoprotein apheresis in patients with maximally tolerated lipid-lowering therapy, lipoprotein(a)-hyperlipoproteinemia, and progressive cardiovascular disease: prospective observational multicenter study. Circulation 2013; 128:2567-2576.
    • (2013) Circulation , vol.128 , pp. 2567-2576
    • Leebmann, J.1    Roeseler, E.2    Julius, U.3
  • 32
    • 84902813856 scopus 로고    scopus 로고
    • The ebbs and flows in the development of cholesterol-lowering drugs: Prospects for the future
    • Hajhosseiny R, Sabir I, Khavandi K, Wierzbicki AS. The ebbs and flows in the development of cholesterol-lowering drugs: prospects for the future. Clin Pharmacol Ther 2014; 96:64-73.
    • (2014) Clin Pharmacol Ther , vol.96 , pp. 64-73
    • Hajhosseiny, R.1    Sabir, I.2    Khavandi, K.3    Wierzbicki, A.S.4
  • 33
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • Cohen JC, Boerwinkle E, Mosley TH Jr, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006; 354:1264-1272.
    • (2006) N Engl J Med , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, T.H.3    Hobbs, H.H.4
  • 34
    • 1642366131 scopus 로고    scopus 로고
    • Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in the Netherlands
    • Wonderling D, Umans-Eckenhausen MA, Marks D, et al. Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med 2004; 4:97-104.
    • (2004) Semin Vasc Med , vol.4 , pp. 97-104
    • Wonderling, D.1    Umans-Eckenhausen, M.A.2    Marks, D.3
  • 35
    • 79959347897 scopus 로고    scopus 로고
    • Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies
    • Nherera L, Marks D, Minhas R, et al. Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart 2011; 97:1175-1181.
    • (2011) Heart , vol.97 , pp. 1175-1181
    • Nherera, L.1    Marks, D.2    Minhas, R.3
  • 36
    • 84883744910 scopus 로고    scopus 로고
    • A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia
    • Ademi Z, Watts GF, Juniper A, Liew D. A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia. Int J Cardiol 2013; 167:2391-2396.
    • (2013) Int J Cardiol , vol.167 , pp. 2391-2396
    • Ademi, Z.1    Watts, G.F.2    Juniper, A.3    Liew, D.4
  • 37
    • 3042761430 scopus 로고    scopus 로고
    • Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial
    • Marteau T, Senior V, Humphries SE, et al. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: a randomized controlled trial. Am J Med Genet A 2004; 128A:285-293.
    • (2004) Am J Med Genet A , vol.128 A , pp. 285-293
    • Marteau, T.1    Senior, V.2    Humphries, S.E.3
  • 38
    • 80054744511 scopus 로고    scopus 로고
    • Child-parent screening for familial hypercholesterolemia
    • Wald DS, Kasturiratne A, Godoy A, et al. Child-parent screening for familial hypercholesterolemia. J Pediatr 2011; 159:865-867.
    • (2011) J Pediatr , vol.159 , pp. 865-867
    • Wald, D.S.1    Kasturiratne, A.2    Godoy, A.3
  • 39
    • 34748870952 scopus 로고    scopus 로고
    • Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-analysis
    • Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ 2007; 335:599.
    • (2007) BMJ , vol.335 , pp. 599
    • Wald, D.S.1    Bestwick, J.P.2    Wald, N.J.3
  • 40
    • 84355166400 scopus 로고    scopus 로고
    • The evaluation of cascade testing for familial hypercholesterolemia
    • Morris JK, Wald DS, Wald NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet A 2012; 158A:78-84.
    • (2012) Am J Med Genet A , vol.158 A , pp. 78-84
    • Morris, J.K.1    Wald, D.S.2    Wald, N.J.3
  • 41
    • 84897970506 scopus 로고    scopus 로고
    • 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines
    • Stone NJ, Robinson JG, Lichtenstein AH, et al. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation 2014; 129:S1-S45.
    • (2014) Circulation , vol.129 , pp. S1-S45
    • Stone, N.J.1    Robinson, J.G.2    Lichtenstein, A.H.3
  • 42
    • 84904497282 scopus 로고    scopus 로고
    • Lipid modification and cardiovascular risk assessment for the primary and secondary prevention of cardiovascular disease: Summary of updated NICE guidance
    • Rabar S, Harker M, O'Flynn N, et al. Lipid modification and cardiovascular risk assessment for the primary and secondary prevention of cardiovascular disease: summary of updated NICE guidance. BMJ 2014; 349:g4356.
    • (2014) BMJ , vol.349 , pp. g4356
    • Rabar, S.1    Harker, M.2    O'Flynn, N.3
  • 43
    • 84892593232 scopus 로고    scopus 로고
    • Missed opportunities in prevention of cardiovascular disease in primary care: A cross-sectional study
    • Sheppard JP, Fletcher K, McManus RJ, Mant J. Missed opportunities in prevention of cardiovascular disease in primary care: a cross-sectional study. Br J Gen Pract 2014; 64:e38-e46.
    • (2014) Br J Gen Pract , vol.64 , pp. e38-e46
    • Sheppard, J.P.1    Fletcher, K.2    McManus, R.J.3    Mant, J.4
  • 44
    • 0037140211 scopus 로고    scopus 로고
    • Comparison of cardiovascular risk between patients with type 2 diabetes and those who had had a myocardial infarction: Cross sectional and cohort studies
    • Evans JM, Wang J, Morris AD. Comparison of cardiovascular risk between patients with type 2 diabetes and those who had had a myocardial infarction: cross sectional and cohort studies. BMJ 2002; 324:939-942.
    • (2002) BMJ , vol.324 , pp. 939-942
    • Evans, J.M.1    Wang, J.2    Morris, A.D.3
  • 46
    • 80053048355 scopus 로고    scopus 로고
    • A new model for 5-year risk of cardiovascular disease in Type 1 diabetes; From the Swedish National Diabetes Register (NDR)
    • Cederholm J, Eeg-Olofsson K, Eliasson B, et al. A new model for 5-year risk of cardiovascular disease in Type 1 diabetes; from the Swedish National Diabetes Register (NDR). Diabet Med 2011; 28:1213-1220.
    • (2011) Diabet Med , vol.28 , pp. 1213-1220
    • Cederholm, J.1    Eeg-Olofsson, K.2    Eliasson, B.3
  • 47
    • 84955396333 scopus 로고    scopus 로고
    • Europe aspires to set the record straight on familial hypercholesterolaemia
    • Watts GF, Pang J, Santos RD. Europe aspires to set the record straight on familial hypercholesterolaemia. Atherosclerosis 2015; 241:769-771.
    • (2015) Atherosclerosis , vol.241 , pp. 769-771
    • Watts, G.F.1    Pang, J.2    Santos, R.D.3
  • 48
    • 84937559951 scopus 로고    scopus 로고
    • Coronary artery calcium improves risk assessment in adults with a family history of premature coronary heart disease: Results from Multiethnic Study of Atherosclerosis
    • Patel J, Al Rifai M, Blaha MJ, et al. Coronary artery calcium improves risk assessment in adults with a family history of premature coronary heart disease: results from Multiethnic Study of Atherosclerosis. Circ Cardiovasc Imaging 2015; 8:e003186.
    • (2015) Circ Cardiovasc Imaging , vol.8 , pp. e003186
    • Patel, J.1    Al Rifai, M.2    Blaha, M.J.3
  • 49
    • 84871798022 scopus 로고    scopus 로고
    • Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia
    • Clarke RE, Padayachee ST, Preston R, et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia. Heart 2013; 99:175-180.
    • (2013) Heart , vol.99 , pp. 175-180
    • Clarke, R.E.1    Padayachee, S.T.2    Preston, R.3
  • 50
    • 0025944056 scopus 로고
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991; 303:893-896.
    • (1991) BMJ , vol.303 , pp. 893-896
  • 51
    • 84931028781 scopus 로고    scopus 로고
    • Mortality among patients with familial hypercholesterolemia: A registry-based study in Norway, 1992-2010
    • Mundal 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:e001236.
    • (2014) J Am Heart Assoc , vol.3 , pp. e001236
    • Mundal, L.1    Sarancic, M.2    Ose, L.3
  • 52
    • 84893873856 scopus 로고    scopus 로고
    • Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers
    • 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; 233:219-223.
    • (2014) Atherosclerosis , vol.233 , pp. 219-223
    • Besseling, J.1    Kindt, I.2    Hof, M.3
  • 53
    • 0035962344 scopus 로고    scopus 로고
    • Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study
    • Sijbrands EJ, Westendorp RG, Defesche JC, et al. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ 2001; 322:1019-1023.
    • (2001) BMJ , vol.322 , pp. 1019-1023
    • Sijbrands, E.J.1    Westendorp, R.G.2    Defesche, J.C.3
  • 54
    • 0019156250 scopus 로고
    • The rise and fall of ischemic heart disease
    • Stallones RA. The rise and fall of ischemic heart disease. Sci Am 1980; 243:53-59.
    • (1980) Sci Am , vol.243 , pp. 53-59
    • Stallones, R.A.1
  • 55
    • 44949145140 scopus 로고    scopus 로고
    • Development of sensitive and specific age- and gender specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing
    • Starr BJ, Hadfield G, Hutten BA, et al. Development of sensitive and specific age- and gender specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008; 46:791-803.
    • (2008) Clin Chem Lab Med , vol.46 , pp. 791-803
    • Starr, B.J.1    Hadfield, G.2    Hutten, B.A.3
  • 56
    • 0037322439 scopus 로고    scopus 로고
    • Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia
    • de Sauvage Nolting PR, Defesche JC, Buirma RJ, et al. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia. J Intern Med 2003; 253:161-168.
    • (2003) J Intern Med , vol.253 , pp. 161-168
    • De Sauvage-Nolting, P.R.1    Defesche, J.C.2    Buirma, R.J.3
  • 57
    • 78651392469 scopus 로고    scopus 로고
    • Derivation, validation, and evaluation of a new QRISK model to estimate lifetime risk of cardiovascular disease: Cohort study using QResearch database
    • Hippisley-Cox J, Coupland C, Robson J, Brindle P. Derivation, validation, and evaluation of a new QRISK model to estimate lifetime risk of cardiovascular disease: cohort study using QResearch database. BMJ 2010; 341: c6624.
    • (2010) BMJ , vol.341 , pp. c6624
    • Hippisley-Cox, J.1    Coupland, C.2    Robson, J.3    Brindle, P.4
  • 58
    • 80052734868 scopus 로고    scopus 로고
    • Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes
    • Huijgen R, Vissers MN, Kindt I, et al. Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes. Circ Cardiovasc Genet 2011; 4:413-417.
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 413-417
    • Huijgen, R.1    Vissers, M.N.2    Kindt, I.3
  • 59
    • 84961289660 scopus 로고    scopus 로고
    • Statins and congenital malformations: Cohort study
    • Bateman BT, Hernandez-Diaz S, Fischer MA, et al. Statins and congenital malformations: cohort study. BMJ 2015; 350:h1035.
    • (2015) BMJ , vol.350 , pp. h1035
    • Bateman, B.T.1    Hernandez-Diaz, S.2    Fischer, M.A.3
  • 60
    • 80053984968 scopus 로고    scopus 로고
    • Pregnancy outcomes in familial hypercholesterolemia: A registry-based study
    • Toleikyte I, Retterstol K, Leren TP, Iversen PO. Pregnancy outcomes in familial hypercholesterolemia: a registry-based study. Circulation 2011; 124:1606-1614.
    • (2011) Circulation , vol.124 , pp. 1606-1614
    • Toleikyte, I.1    Retterstol, K.2    Leren, T.P.3    Iversen, P.O.4
  • 61
    • 84934965790 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia in children and adolescents: Gaining decades of life by optimizing detection and treatment
    • Wiegman A, Gidding SS, Watts GF, et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015; 36:2425-2437.
    • (2015) Eur Heart J , vol.36 , pp. 2425-2437
    • Wiegman, A.1    Gidding, S.S.2    Watts, G.F.3
  • 62
    • 84907008306 scopus 로고    scopus 로고
    • Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia
    • Kusters DM, Avis HJ, de Groot E, et al. Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia. JAMA 2014; 312:1055-1057.
    • (2014) JAMA , vol.312 , pp. 1055-1057
    • Kusters, D.M.1    Avis, H.J.2    De Groot, E.3
  • 63
    • 84968329666 scopus 로고    scopus 로고
    • Point/counterpoint: Is universal screening and treatment of hypercholesterolemia in children justified? No: The evidence does not supports universal screening and treatment
    • Belamarich PF. Point/counterpoint: is universal screening and treatment of hypercholesterolemia in children justified? No: the evidence does not supports universal screening and treatment. J Clin Lipidol 2015; 9.
    • (2015) J Clin Lipidol , pp. 9
    • Belamarich, P.F.1
  • 64
    • 84863728434 scopus 로고    scopus 로고
    • Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: Cross-sectional postal questionnaire study
    • Huijgen R, Homsma SJ, Hutten BA, et al. Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study. Eur J Hum Genet 2012; 20:722-728.
    • (2012) Eur J Hum Genet , vol.20 , pp. 722-728
    • Huijgen, R.1    Homsma, S.J.2    Hutten, B.A.3
  • 65
    • 1442274587 scopus 로고    scopus 로고
    • Effect of statin treatment for familial hypercholesterolaemia on life assurance: Results of consecutive surveys in 1990 and 2002
    • Neil HA, Hammond T, Mant D, Humphries SE. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002. BMJ 2004; 328:500-501.
    • (2004) BMJ , vol.328 , pp. 500-501
    • Neil, H.A.1    Hammond, T.2    Mant, D.3    Humphries, S.E.4
  • 66
    • 33750900951 scopus 로고    scopus 로고
    • Relative risk for cardiovascular atherosclerotic events after smoking cessation: 6-9 years excess risk in individuals with familial hypercholesterolemia
    • Kramer A, Jansen AC, van Aalst-Cohen ES, et al. Relative risk for cardiovascular atherosclerotic events after smoking cessation: 6-9 years excess risk in individuals with familial hypercholesterolemia. BMC Public Health 2006; 6:262.
    • (2006) BMC Public Health , vol.6 , pp. 262
    • Kramer, A.1    Jansen, A.C.2    Van Aalst-Cohen, E.S.3
  • 67
    • 33646529852 scopus 로고    scopus 로고
    • Plant stanols do not restore endothelial function in prepubertal children with familial hypercholesterolemia despite reduction of low-density lipoprotein cholesterol levels
    • Jakulj L, Vissers MN, Rodenburg J, et al. Plant stanols do not restore endothelial function in prepubertal children with familial hypercholesterolemia despite reduction of low-density lipoprotein cholesterol levels. J Pediatr 2006; 148:495-500.
    • (2006) J Pediatr , vol.148 , pp. 495-500
    • Jakulj, L.1    Vissers, M.N.2    Rodenburg, J.3
  • 68
    • 84924358878 scopus 로고    scopus 로고
    • Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitus
    • Besseling J, Kastelein JJ, Defesche JC, et al. Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitus. JAMA 2015; 313:1029-1036.
    • (2015) JAMA , vol.313 , pp. 1029-1036
    • Besseling, J.1    Kastelein, J.J.2    Defesche, J.C.3
  • 69
    • 79959332777 scopus 로고    scopus 로고
    • Efficacy of statins in familial hypercholesterolaemia: A long term cohort study
    • Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008; 337:a2423.
    • (2008) BMJ , vol.337 , pp. a2423
    • Versmissen, J.1    Oosterveer, D.M.2    Yazdanpanah, M.3
  • 70
    • 0035941786 scopus 로고    scopus 로고
    • Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): A prospective, randomised, double-blind trial
    • Smilde TJ, van Wissen S, Wollersheim H, et al. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001; 357:577-581.
    • (2001) Lancet , vol.357 , pp. 577-581
    • Smilde, T.J.1    Van Wissen, S.2    Wollersheim, H.3
  • 71
    • 79959428660 scopus 로고    scopus 로고
    • Risk of incident diabetes with intensivedose compared with moderate-dose statin therapy: A meta-analysis
    • Preiss D, Seshasai SR, Welsh P, et al. Risk of incident diabetes with intensivedose compared with moderate-dose statin therapy: a meta-analysis. JAMA 2011; 305:2556-2564.
    • (2011) JAMA , vol.305 , pp. 2556-2564
    • Preiss, D.1    Seshasai, S.R.2    Welsh, P.3
  • 72
    • 84921493092 scopus 로고    scopus 로고
    • HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: Evidence from genetic analysis and randomised trials
    • Swerdlow DI, Preiss D, Kuchenbaecker KB, et al. HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials. Lancet 2015; 385:351-361.
    • (2015) Lancet , vol.385 , pp. 351-361
    • Swerdlow, D.I.1    Preiss, D.2    Kuchenbaecker, K.B.3
  • 73
    • 42549113872 scopus 로고    scopus 로고
    • Ezetimibe for the treatment of primary (heterozygous-familial and nonfamilial) hypercholesterolaemia: NICE technology appraisal guidance
    • Charles Z, Pugh E, Barnett D. Ezetimibe for the treatment of primary (heterozygous-familial and nonfamilial) hypercholesterolaemia: NICE technology appraisal guidance. Heart 2008; 94:642-643.
    • (2008) Heart , vol.94 , pp. 642-643
    • Charles, Z.1    Pugh, E.2    Barnett, D.3
  • 74
    • 44249091844 scopus 로고    scopus 로고
    • Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project
    • Hadfield SG, Horara S, Starr BJ, et al. Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project. Ann Clin Biochem 2008; 45:199-205.
    • (2008) Ann Clin Biochem , vol.45 , pp. 199-205
    • Hadfield, S.G.1    Horara, S.2    Starr, B.J.3
  • 75
    • 41649107358 scopus 로고    scopus 로고
    • Simvastatin with or without ezetimibe in familial hypercholesterolemia
    • Kastelein JJ, Akdim F, Stroes ES, et al. Simvastatin with or without ezetimibe in familial hypercholesterolemia. N Engl J Med 2008; 358:1431-1443.
    • (2008) N Engl J Med , vol.358 , pp. 1431-1443
    • Kastelein, J.J.1    Akdim, F.2    Stroes, E.S.3
  • 76
    • 81755174287 scopus 로고    scopus 로고
    • The ezetimibe Jonah: The trials and tribulations of an unlucky drug
    • Wierzbicki AS. The ezetimibe Jonah: the trials and tribulations of an unlucky drug. Int J Clin Pract 2011; 65:1207-1208.
    • (2011) Int J Clin Pract , vol.65 , pp. 1207-1208
    • Wierzbicki, A.S.1
  • 77
    • 84931411520 scopus 로고    scopus 로고
    • Ezetimibe added to statin therapy after acute coronary syndromes
    • Cannon CP, Blazing MA, Giugliano RP, et al. Ezetimibe added to statin therapy after acute coronary syndromes. N Engl J Med 2015; 372:2387-2397.
    • (2015) N Engl J Med , vol.372 , pp. 2387-2397
    • Cannon, C.P.1    Blazing, M.A.2    Giugliano, R.P.3
  • 78
    • 84908402183 scopus 로고    scopus 로고
    • Prolonged combination lipid therapy is associated with reduced carotid intima-media thickness: A case-control study of the 20-year Familial Atherosclerosis Treatment: Observational Study (FATS-OS)
    • Phan BA, Moore AB, Davis J, et al. Prolonged combination lipid therapy is associated with reduced carotid intima-media thickness: a case-control study of the 20-year Familial Atherosclerosis Treatment: Observational Study (FATS-OS). J Clin Lipidol 2014; 8:489-493.
    • (2014) J Clin Lipidol , vol.8 , pp. 489-493
    • Phan, B.A.1    Moore, A.B.2    Davis, J.3
  • 79
    • 84865530645 scopus 로고    scopus 로고
    • Prescribing high-dose lipid-lowering therapy early to avoid subsequent cardiovascular events: Is this a cost-effective strategy?
    • Ara R, Pandor A, Stevens J, et al. Prescribing high-dose lipid-lowering therapy early to avoid subsequent cardiovascular events: is this a cost-effective strategy? Eur J Prev Cardiol 2012; 19:474-483.
    • (2012) Eur J Prev Cardiol , vol.19 , pp. 474-483
    • Ara, R.1    Pandor, A.2    Stevens, J.3
  • 80
    • 84921459685 scopus 로고    scopus 로고
    • Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): A randomised, double-blind, placebo-controlled trial
    • Raal FJ, Honarpour N, Blom DJ, et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 385:341-350.
    • (2015) Lancet , vol.385 , pp. 341-350
    • Raal, F.J.1    Honarpour, N.2    Blom, D.J.3
  • 81
    • 84887164358 scopus 로고    scopus 로고
    • Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia
    • Stein EA, Honarpour N, Wasserman SM, et al. Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. Circulation 2013; 128:2113-2120.
    • (2013) Circulation , vol.128 , pp. 2113-2120
    • Stein, E.A.1    Honarpour, N.2    Wasserman, S.M.3
  • 82
    • 84906716305 scopus 로고    scopus 로고
    • Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management. A position paper from the consensus panel on familial hypercholesterolaemia of the European Atherosclerosis Society
    • Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the consensus panel on familial hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35:2146-2157.
    • (2014) Eur Heart J , vol.35 , pp. 2146-2157
    • Cuchel, M.1    Bruckert, E.2    Ginsberg, H.N.3
  • 83
    • 84935001755 scopus 로고    scopus 로고
    • Safety and efficacy of anti-PCSK9 antibodies: A meta-analysis of 25 randomized, controlled trials
    • Zhang XL, Zhu QQ, Zhu L, et al. Safety and efficacy of anti-PCSK9 antibodies: a meta-analysis of 25 randomized, controlled trials. BMC Med 2015; 13:123.
    • (2015) BMC Med , vol.13 , pp. 123
    • Zhang, X.L.1    Zhu, Q.Q.2    Zhu, L.3
  • 84
    • 84899554091 scopus 로고    scopus 로고
    • Impact of the ENHANCE trial on the use of ezetimibe in the United States and Canada
    • Lu L, Krumholz HM, Tu JV, et al. Impact of the ENHANCE trial on the use of ezetimibe in the United States and Canada. Am Heart J 2014; 167:683-689.
    • (2014) Am Heart J , vol.167 , pp. 683-689
    • Lu, L.1    Krumholz, H.M.2    Tu, J.V.3
  • 85
    • 84912576115 scopus 로고    scopus 로고
    • Optimising the detection and management of familial hypercholesterolaemia: Central role of primary care and its integration with specialist services
    • Vickery AW, Bell D, Garton-Smith J, et al. Optimising the detection and management of familial hypercholesterolaemia: central role of primary care and its integration with specialist services. Heart Lung Circ 2014; 23:1158-1164.
    • (2014) Heart Lung Circ , vol.23 , pp. 1158-1164
    • Vickery, A.W.1    Bell, D.2    Garton-Smith, J.3
  • 86
    • 84926646062 scopus 로고    scopus 로고
    • A framework for bridging the gap in the care of familial hypercholesterolaemia in the community: Pragmatic and economic perspectives
    • Purchase S, Vickery A, Garton-Smith J, et al. A framework for bridging the gap in the care of familial hypercholesterolaemia in the community: pragmatic and economic perspectives. Int J Evid Based Healthc 2014; 12:244-254.
    • (2014) Int J Evid Based Healthc , vol.12 , pp. 244-254
    • Purchase, S.1    Vickery, A.2    Garton-Smith, J.3
  • 87
    • 84867368127 scopus 로고    scopus 로고
    • Detection and care of familial hypercholesterolaemia in the community: Is there a role for the pharmacist?
    • Krass I, Walker AT, Watts GF. Detection and care of familial hypercholesterolaemia in the community: is there a role for the pharmacist? Int J Clin Pharm 2012; 34:501-505.
    • (2012) Int J Clin Pharm , vol.34 , pp. 501-505
    • Krass, I.1    Walker, A.T.2    Watts, G.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.