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Volumn 11, Issue 8, 2013, Pages 1061-1066

Screening methods in the diagnosis and assessment of children and adolescents with familial hypercholesterolemia

Author keywords

children; familial hypercholesterolemia; genetic testing; metabolic disease; screening

Indexed keywords

HYPOCHOLESTEROLEMIC AGENT; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84887903148     PISSN: 14779072     EISSN: 17448344     Source Type: Journal    
DOI: 10.1586/14779072.2013.814851     Document Type: Review
Times cited : (22)

References (35)
  • 1
    • 79956278397 scopus 로고    scopus 로고
    • Familial hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Hopkins PN, Toth PP, Ballantyne CM, Rader DJ; National Lipid Association Expert Panel on Familial Hypercholesterolemia. Familial hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J. Clin. Lipidol. 5(3 Suppl.), S9-S17 (2011
    • (2011) J. Clin. Lipidol , vol.5 , Issue.3 SUPPL.
    • Hopkins, P.N.1    Toth, P.P.2    Ballantyne, C.M.3    Rader, D.J.4
  • 2
    • 0000600880 scopus 로고    scopus 로고
    • Familial hypercholesterolemia
    • 8th Edition) Scriver CR, Beaudet AL, Sly WS, Valle D (Eds.). McGraw-Hill Information Services, NY, USA
    • Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The Metabolic and Molecular Bases of Inherited Disease (8th Edition). Scriver CR, Beaudet AL, Sly WS, Valle D (Eds.). McGraw-Hill Information Services, NY, USA, 2863-2913 (2001
    • (2001) Metabolic and Molecular Bases of Inherited Disease , pp. 2863-2913
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 3
    • 0032890205 scopus 로고    scopus 로고
    • No author listed. Mortality in treated heterozygous familial hypercholesterolaemia : Implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group
    • No author listed. Mortality in treated heterozygous familial hypercholesterolaemia : Implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 142(1), 105-112 (1999
    • (1999) Atherosclerosis , vol.142 , Issue.1 , pp. 105-112
  • 5
    • 84864284823 scopus 로고    scopus 로고
    • Apheresis in homozygous familial hypercholesterolemia: The results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia
    • Gr'sdal A, Bogsrud MP, Holven KB et al. Apheresis in homozygous familial hypercholesterolemia: The results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia. J. Clin. Lipidol. 6(4), 331-339 (2012
    • (2012) J. Clin. Lipidol , vol.6 , Issue.4 , pp. 331-339
    • Gr'sdal, A.1    Bogsrud, M.P.2    Holven, K.B.3
  • 6
    • 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. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 303(6807), 893-896 (1991
    • (1991) BMJ , vol.303 , Issue.6807 , pp. 893-896
  • 7
    • 10744233618 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
    • International Panel on Management of Familial Hypercholesterolemia
    • Civeira F; International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 173(1), 55-68 (2004
    • (2004) Atherosclerosis , vol.173 , Issue.1 , pp. 55-68
    • Civeira, F.1
  • 8
    • 0027301629 scopus 로고
    • Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
    • Williams RR, Hunt SC, Schumacher MC et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am. J. Cardiol. 72(2), 171-176 (1993
    • (1993) Am. J. Cardiol , vol.72 , Issue.2 , pp. 171-176
    • Williams, R.R.1    Hunt, S.C.2    Schumacher, M.C.3
  • 9
    • 0842326456 scopus 로고    scopus 로고
    • Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia
    • Wiegman A, de GE, Hutten BA et al. Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia. Lancet 363(9406), 369-370 (2004
    • (2004) Lancet , vol.363 , Issue.9406 , pp. 369-370
    • Wiegman, A.1    De, G.E.2    Hutten, B.A.3
  • 10
    • 34548186503 scopus 로고    scopus 로고
    • Statin treatment in children with familial hypercholesterolemia: The younger, the better
    • Rodenburg J, Vissers MN, Wiegman A et al. Statin treatment in children with familial hypercholesterolemia: The younger, the better. Circulation 116(6), 664-668 (2007
    • (2007) Circulation , vol.116 , Issue.6 , pp. 664-668
    • Rodenburg, J.1    Vissers, M.N.2    Wiegman, A.3
  • 11
    • 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. 29(21), 2625-2633 (2008
    • (2008) Eur. Heart J. , vol.29 , Issue.21 , pp. 2625-2633
    • Neil, A.1    Cooper, J.2    Betteridge, J.3
  • 12
    • 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 337, a2423 (2008
    • (2008) BMJ , vol.337
    • Versmissen, J.1    Oosterveer, D.M.2    Yazdanpanah, M.3
  • 13
    • 49549125242 scopus 로고
    • Principles and practice of screening for disease
    • Wilson JMG, Jungner G. Principles and practice of screening for disease. WHO Chronicle 22(11), 473 (1968
    • (1968) WHO Chronicle , vol.22 , Issue.11 , pp. 473
    • Wilson, J.M.G.1    Jungner, G.2
  • 14
    • 34447121242 scopus 로고    scopus 로고
    • Screening for lipid disorders in children: US Preventive Services Task Force recommendation statement
    • Screening for lipid disorders in children: US Preventive Services Task Force recommendation statement. Pediatrics 120(1), e215-e219 (2007
    • (2007) Pediatrics , vol.120 , Issue.1
  • 15
    • 0037465848 scopus 로고    scopus 로고
    • American heart association guidelines for primary prevention of atherosclerotic cardiovascular disease beginning in childhood
    • American Heart Association
    • Kavey RE, Daniels SR, Lauer RM, Atkins DL, Hayman LL, Taubert K; American Heart Association. American Heart Association guidelines for primary prevention of atherosclerotic cardiovascular disease beginning in childhood. Circulation 107(11), 1562-1566 (2003
    • (2003) Circulation , vol.107 , Issue.11 , pp. 1562-1566
    • Kavey, R.E.1    Daniels, S.R.2    Lauer, R.M.3    Atkins, D.L.4    Hayman, L.L.5    Taubert, K.6
  • 16
    • 34247129908 scopus 로고    scopus 로고
    • Drug therapy of high-risk lipid abnormalities in children and adolescents: A scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee, Council of Cardiovascular Disease in the Young, with the Council on Cardiovascular Nursing
    • American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee; American Heart Association Council of Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular Nursing
    • McCrindle BW, Urbina EM, Dennison BA et al.; American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee; American Heart Association Council of Cardiovascular Disease in the Young; American Heart Association Council on Cardiovascular Nursing. Drug therapy of high-risk lipid abnormalities in children and adolescents: A scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee, Council of Cardiovascular Disease in the Young, with the Council on Cardiovascular Nursing. Circulation 115(14), 1948-1967 (2007
    • (2007) Circulation , vol.115 , Issue.14 , pp. 1948-1967
    • McCrindle, B.W.1    Urbina, E.M.2    Dennison, B.A.3
  • 17
    • 77955499943 scopus 로고    scopus 로고
    • Universal versus targeted blood cholesterol screening among youth: The CARDIAC project
    • Ritchie SK, Murphy EC, Ice C et al. Universal versus targeted blood cholesterol screening among youth: The CARDIAC project. Pediatrics 126(2), 260-265 (2010
    • (2010) Pediatrics , vol.126 , Issue.2 , pp. 260-265
    • Ritchie, S.K.1    Murphy, E.C.2    Ice, C.3
  • 18
    • 84857619617 scopus 로고    scopus 로고
    • Cascade Screening for Familial Hypercholesterolemia (FH
    • RRN1238
    • Ned RM, Sijbrands EJ. Cascade Screening for Familial Hypercholesterolemia (FH). PLoS Curr. 3, RRN1238 (2011
    • (2011) PLoS Curr , vol.3
    • Ned, R.M.1    Sijbrands, E.J.2
  • 19
    • 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 SG, 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. 46(6), 791-803 (2008
    • (2008) Clin. Chem. Lab. Med , vol.46 , Issue.6 , pp. 791-803
    • Starr, B.1    Hadfield, S.G.2    Hutten, B.A.3
  • 20
    • 80053292217 scopus 로고    scopus 로고
    • 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
    • Descamps OS, 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 218(2), 272-280 (2011
    • (2011) Atherosclerosis , vol.218 , Issue.2 , pp. 272-280
    • Descamps, O.S.1    Tenoutasse, S.2    Stephenne, X.3
  • 21
    • 0034928709 scopus 로고    scopus 로고
    • Estimating the efficacy and efficiency of cascade genetic screening
    • Krawczak M, Cooper DN, Schmidtke J. Estimating the efficacy and efficiency of cascade genetic screening. Am. J. Hum. Genet. 69(2), 361-370 (2001
    • (2001) Am. J. Hum. Genet , vol.69 , Issue.2 , pp. 361-370
    • Krawczak, M.1    Cooper, D.N.2    Schmidtke, J.3
  • 23
  • 24
    • 84857234423 scopus 로고    scopus 로고
    • Paediatric screening for hypercholesterolaemia in Europe
    • Kusters DM, de BC, Widhalm K et al. Paediatric screening for hypercholesterolaemia in Europe. Arch. Dis. Child. 97(3), 272-276 (2012
    • (2012) Arch. Dis. Child , vol.97 , Issue.3 , pp. 272-276
    • Kusters, D.M.1    De Bc Widhalm, K.2
  • 25
    • 38349058652 scopus 로고    scopus 로고
    • Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening
    • Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Community Genet. 11(1), 26-35 (2008
    • (2008) Community Genet , vol.11 , Issue.1 , pp. 26-35
    • Leren, T.P.1    Finborud, T.H.2    Manshaus, T.E.3    Ose, L.4    Berge, K.E.5
  • 26
    • 77950174523 scopus 로고    scopus 로고
    • Two years after molecular diagnosis of familial hypercholesterolemia: Majority on cholesterol-lowering treatment but a minority reaches treatment goal
    • Huijgen R, Kindt I, Verhoeven SB et al. Two years after molecular diagnosis of familial hypercholesterolemia: Majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS ONE 5(2), e9220 (2010
    • (2010) PLoS ONE , vol.5 , Issue.2
    • Huijgen, R.1    Kindt, I.2    Verhoeven, S.B.3
  • 27
    • 51249096285 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: Summary of NICE guidance
    • Guideline Development Group
    • Wierzbicki AS, Humphries SE, Minhas R; Guideline Development Group. Familial hypercholesterolaemia: Summary of NICE guidance. BMJ 337, a1095 (2008
    • (2008) BMJ , vol.337
    • Wierzbicki, A.S.1    Humphries, S.E.2    Minhas, R.3
  • 28
    • 34748870952 scopus 로고    scopus 로고
    • Child-parent screening for familial hypercholesterolaemia: Screening needs a fresh approach
    • Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: Screening needs a fresh approach. BMJ 335(7628), 599 (2007
    • (2007) BMJ , vol.335 , Issue.7628 , pp. 599
    • Wald, D.S.1    Bestwick, J.P.2    Wald, N.J.3
  • 29
    • 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
    • National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Goldberg AC, Hopkins PN, Toth PP et al.; National Lipid Association Expert Panel on Familial Hypercholesterolemia. 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. 5(3 Suppl), S1-S8 (2011
    • (2011) J. Clin. Lipidol , vol.5 , Issue.3 SUPPL.
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3
  • 30
    • 84055213533 scopus 로고    scopus 로고
    • Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary report
    • Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: Summary report. Pediatrics 128(Suppl. 5), S213-S256 (2011
    • (2011) Pediatrics , vol.128 , Issue.SUPPL. 5
  • 31
    • 57149094879 scopus 로고    scopus 로고
    • Predictive genetic testing for cardiovascular diseases: Impact on carrier children
    • Meulenkamp TM, Tibben A, Mollema ED et al. Predictive genetic testing for cardiovascular diseases: Impact on carrier children. Am. J. Med. Genet. A 146A(24), 3136-3146 (2008
    • (2008) Am. J. Med. Genet.A , vol.146 A , Issue.24 , pp. 3136-3146
    • Meulenkamp, T.M.1    Tibben, A.2    Mollema, E.D.3
  • 32
    • 0141956364 scopus 로고    scopus 로고
    • Quality of life, anxiety and concerns among statin-treated children with familial hypercholesterolaemia and their parents
    • de Jongh S, Kerckhoffs MC, Grootenhuis MA, Bakker HD, Heymans HS, Last BF. Quality of life, anxiety and concerns among statin-treated children with familial hypercholesterolaemia and their parents. Acta Paediatr. 92(9), 1096-1101 (2003
    • (2003) Acta Paediatr , vol.92 , Issue.9 , pp. 1096-1101
    • De Jongh, S.1    Kerckhoffs, M.C.2    Grootenhuis, M.A.3    Bakker, H.D.4    Heymans, H.S.5    Last, B.F.6
  • 34
    • 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
    • Int. J. Cardiol , vol.2013
    • Ademi, Z.1    Watts, G.F.2    Juniper, A.3    Liew, D.4
  • 35
    • 84872376838 scopus 로고    scopus 로고
    • Statin treatment of children with familial hypercholesterolemia - Trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus?
    • Vuorio A, Docherty KF, Humphries SE, Kuoppala J, Kovanen PT Statin treatment of children with familial hypercholesterolemia - trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus? Atherosclerosis 226(2), 315-320 (2013
    • (2013) Atherosclerosis , vol.226 , Issue.2 , pp. 315-320
    • Vuorio, A.1    Docherty, K.F.2    Humphries, S.E.3    Kuoppala, J.4    Kovanen, P.T.5


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