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Volumn 231, Issue 2, 2013, Pages 223-226

Familial hypercholesterolaemia: A pressing issue for European health care

Author keywords

Cascade screening; DNA testing; Familial hypercholesterolaemia; Genetic diagnosis; Low density lipoprotein cholesterol (LDL cholesterol); Policy

Indexed keywords

EUROPE; EUROPEAN HEALTH CARE; FAMILIAL HYPERCHOLESTEROLEMIA; GENETIC SCREENING; GENOME; HEALTH CARE; HUMAN; MORTALITY; NOTE; PRACTICE GUIDELINE; PREVALENCE; PREVENTIVE MEDICINE; PRIORITY JOURNAL; SCREENING; UNITED KINGDOM;

EID: 84888100073     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2013.09.019     Document Type: Note
Times cited : (24)

References (29)
  • 1
    • 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
    • [Epub ahead of print]
    • Nordestgaard B.G., Chapman M.J., Humphries S.E., 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 August 2013, 15. [Epub ahead of print]. 10.1093/eurheartj/eht273.
    • (2013) Eur Heart J , vol.15
    • Nordestgaard, B.G.1    Chapman, M.J.2    Humphries, S.E.3
  • 2
    • 84868628467 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication
    • Benn M., Watts G.F., Tybjaerg-Hansen A., et al. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. JClin Endocrinol Metab 2012, 97:3956-3964.
    • (2012) JClin Endocrinol Metab , vol.97 , pp. 3956-3964
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3
  • 3
    • 84864772507 scopus 로고    scopus 로고
    • Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment
    • Raal F.J., Santos R.D. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis 2012, 223:262-268.
    • (2012) Atherosclerosis , vol.223 , pp. 262-268
    • Raal, F.J.1    Santos, R.D.2
  • 4
    • 0014693152 scopus 로고
    • Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states
    • Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969, 2:1380-1382.
    • (1969) Lancet , vol.2 , pp. 1380-1382
    • Slack, J.1
  • 5
    • 84870257531 scopus 로고    scopus 로고
    • Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia
    • Futema M., Plagnol V., Whittall R.A., et al. Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. JMed Genet 2012, 49(10):644-649.
    • (2012) JMed Genet , vol.49 , Issue.10 , pp. 644-649
    • Futema, M.1    Plagnol, V.2    Whittall, R.A.3
  • 6
    • 33947679772 scopus 로고    scopus 로고
    • Mechanisms of disease: genetic causes of familial hypercholesterolemia
    • Soutar A.K., Naoumova R.P. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007, 4(4):214-225.
    • (2007) Nat Clin Pract Cardiovasc Med , vol.4 , Issue.4 , pp. 214-225
    • Soutar, A.K.1    Naoumova, R.P.2
  • 7
    • 84876167878 scopus 로고    scopus 로고
    • Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
    • Talmud P.J., Shah S., Whittall R., et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013, 381(9874):1293-1301.
    • (2013) Lancet , vol.381 , Issue.9874 , pp. 1293-1301
    • Talmud, P.J.1    Shah, S.2    Whittall, R.3
  • 8
    • 77957867597 scopus 로고    scopus 로고
    • Novel therapies and new targets of treatment for familial hypercholesterolemia
    • Goldberg A.C. Novel therapies and new targets of treatment for familial hypercholesterolemia. JClin Lipidol 2010, 4(5):350-356.
    • (2010) JClin Lipidol , vol.4 , Issue.5 , pp. 350-356
    • Goldberg, A.C.1
  • 9
    • 84869220345 scopus 로고    scopus 로고
    • Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the reduction of LDL-C with PCSK9 inhibition in heterozygous familial hypercholesterolemia disorder (RUTHERFORD) randomized trial
    • Raal F., Scott R., Somaratne R., et al. Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the reduction of LDL-C with PCSK9 inhibition in heterozygous familial hypercholesterolemia disorder (RUTHERFORD) randomized trial. Circulation 2012, 126(20):2408-2417.
    • (2012) Circulation , vol.126 , Issue.20 , pp. 2408-2417
    • Raal, F.1    Scott, R.2    Somaratne, R.3
  • 10
    • 55749088063 scopus 로고    scopus 로고
    • Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study
    • Neil A., Cooper J., Betteridge J., et al. Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study. Eur Heart J 2008, 29(21):2625-2633.
    • (2008) Eur Heart J , vol.29 , Issue.21 , pp. 2625-2633
    • Neil, A.1    Cooper, J.2    Betteridge, J.3
  • 11
    • 79959332777 scopus 로고    scopus 로고
    • Efficacy of statins in familial hypercholesterolaemia: a long term cohort study
    • Versmissen J., Oosterveer D.M., Yazdanpanah M., et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008, 337:a2423.
    • (2008) BMJ , vol.337
    • Versmissen, J.1    Oosterveer, D.M.2    Yazdanpanah, M.3
  • 12
    • 0842326456 scopus 로고    scopus 로고
    • Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia
    • Wiegman A., De Groot E., Hutten B.A., et al. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia. Lancet 2004, 363(9406):369-370.
    • (2004) Lancet , vol.363 , Issue.9406 , pp. 369-370
    • Wiegman, A.1    De Groot, E.2    Hutten, B.A.3
  • 13
    • 84859920295 scopus 로고    scopus 로고
    • Drug therapy of hypercholesterolaemia in children and adolescents
    • Braamskamp M.J.A.M., Wijburg F.A., Wiegman A. Drug therapy of hypercholesterolaemia in children and adolescents. Drugs 2012, 72(6):759-772.
    • (2012) Drugs , vol.72 , Issue.6 , pp. 759-772
    • Braamskamp, M.J.A.M.1    Wijburg, F.A.2    Wiegman, A.3
  • 14
    • 0037541585 scopus 로고    scopus 로고
    • Areview on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
    • Marks D., Thorogood M., Neil H.A.W., et al. Areview 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.W.3
  • 16
    • 17044427538 scopus 로고    scopus 로고
    • The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
    • Damgaard D., Larsen M.L., Nissen P.H., et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005, 180:155-160.
    • (2005) Atherosclerosis , vol.180 , pp. 155-160
    • Damgaard, D.1    Larsen, M.L.2    Nissen, P.H.3
  • 17
    • 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 B., Hadfield S.G., Hutten B.A., 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(6):791-803.
    • (2008) Clin Chem Lab Med , vol.46 , Issue.6 , pp. 791-803
    • Starr, B.1    Hadfield, S.G.2    Hutten, B.A.3
  • 18
    • 84865076877 scopus 로고    scopus 로고
    • Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment
    • Usifo E., Leigh S.E., Whittall R.A., et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 2012, 76(5):387-401.
    • (2012) Ann Hum Genet , vol.76 , Issue.5 , pp. 387-401
    • Usifo, E.1    Leigh, S.E.2    Whittall, R.A.3
  • 19
    • 84864579096 scopus 로고    scopus 로고
    • Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26,406 individuals tested for genetic FH
    • Huijgen R., Hutten B.A., Kindt I., et al. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet 2012, 5:354-359.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 354-359
    • Huijgen, R.1    Hutten, B.A.2    Kindt, I.3
  • 20
    • 79952267763 scopus 로고    scopus 로고
    • Families at risk of genetically high cholesterol are not being spotted, says royal college
    • Mooney H. Families at risk of genetically high cholesterol are not being spotted, says royal college. BMJ 2011, 342:d520.
    • (2011) BMJ , vol.342
    • Mooney, H.1
  • 21
    • 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
  • 22
    • 84888097468 scopus 로고    scopus 로고
    • National Institute for Health and Clinical Excellence, NICE, London, (Diagnostics Guidance 2). Available from:, [accessed 28 August 2013]
    • National Institute for Health and Clinical Excellence Diagnostics guidance 2: elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia 2011, NICE, London, (Diagnostics Guidance 2). Available from:, [accessed 28 August 2013]. http://www.nice.org.uk/DG2.
    • (2011) Diagnostics guidance 2: elucigene FH20 and LIPOchip for the diagnosis of familial hypercholesterolaemia
  • 24
    • 84859345581 scopus 로고    scopus 로고
    • Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes
    • Hollants S., Redeker E.J.W., Matthijs G. Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. Clin Chem 2012, 58(4):717-724.
    • (2012) Clin Chem , vol.58 , Issue.4 , pp. 717-724
    • Hollants, S.1    Redeker, E.J.W.2    Matthijs, G.3
  • 25
    • 84890050247 scopus 로고    scopus 로고
    • The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
    • [Epub ahead of print]
    • Vandrovcova J., Thomas E.R., Atanur S.S., et al. The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. Genet Med 2013 May 16, [Epub ahead of print]. 10.1038/gim.2013.55.
    • (2013) Genet Med
    • Vandrovcova, J.1    Thomas, E.R.2    Atanur, S.S.3
  • 26
    • 0035915685 scopus 로고    scopus 로고
    • Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
    • Umans-Eckenhausen M.A., Defesche J.C., Sijbrands E.J., et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001, 357:165-168.
    • (2001) Lancet , vol.357 , pp. 165-168
    • Umans-Eckenhausen, M.A.1    Defesche, J.C.2    Sijbrands, E.J.3
  • 27
    • 84879638271 scopus 로고    scopus 로고
    • Prime Minister's Office, 10 Downing Street, Press release, Available from:, [accessed 28 August 2013]
    • Prime Minister's Office, 10 Downing Street DNA tests to revolutionise fight against cancer and help 100,000 NHS patients 10 December 2012, Press release, Available from:, [accessed 28 August 2013]. http://www.gov.uk/government/news/dna-tests-to-revolutionise-fight-against-cancer-and-help-100000-nhs-patients.
    • (2012) DNA tests to revolutionise fight against cancer and help 100,000 NHS patients
  • 28
    • 84888103166 scopus 로고    scopus 로고
    • Department of Health Cardiovascular Disease Outcomes Strategy, [Government report online], Available from:, [accessed 28 August 2013]
    • Department of Health Cardiovascular Disease Outcomes Strategy Gateway reference 18747 05 March 2013, [Government report online], Available from:, [accessed 28 August 2013]. http://www.gov.uk/government/publications/improving-cardiovascular-disease-outcomes-strategy.
    • (2013) Gateway reference 18747
  • 29
    • 84888111811 scopus 로고    scopus 로고
    • National Institute for Health and Clinical Excellence, NICE, London, (Quality Standards 41) Available from:, [accessed 28 August 2013]
    • National Institute for Health and Clinical Excellence Familial hypercholesterolaemia 2013, NICE, London, (Quality Standards 41) Available from:, [accessed 28 August 2013]. http://www.nice.org.uk/QS41.
    • (2013) Familial hypercholesterolaemia


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.