메뉴 건너뛰기




Volumn 23, Issue 4, 2012, Pages 282-289

Identification of people with heterozygous familial hypercholesterolemia

Author keywords

cascade screening; familial hypercholesterolemia; genetic testing; universal screening

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 84863956322     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0b013e3283556c33     Document Type: Review
Times cited : (53)

References (42)
  • 2
    • 79956278397 scopus 로고    scopus 로고
    • Familial hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Hopkins PN, Toth PP, Ballantyne CM, Rader DJ. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5 (3 Suppl.):S9-S17.
    • (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
  • 3
    • 0037541585 scopus 로고    scopus 로고
    • A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
    • Marks D, Thorogood M, Neil HAW, 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.W.3    Humphries, S.E.4
  • 4
    • 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; 29:2625-2633.
    • (2008) Eur Heart J , vol.29 , pp. 2625-2633
    • Neil, A.1    Cooper, J.2    Betteridge, J.3
  • 5
    • 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
    • Versmissen, J.1    Oosterveer, D.M.2    Yazdanpanah, M.3
  • 6
    • 33947679772 scopus 로고    scopus 로고
    • Mechanisms of disease: Genetic causes of familial hypercholesterolemia
    • Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med 2007; 4:214-225.
    • (2007) Nat Clin Pract Cardiovasc Med , vol.4 , pp. 214-225
    • Soutar, A.K.1    Naoumova, R.P.2
  • 7
    • 37249029830 scopus 로고    scopus 로고
    • Genetic heterogeneity of autosomal dominant hypercholesterolemia
    • Varret M, Abifadel M, Rabè s J-P, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008; 73:1-13.
    • (2008) Clin Genet , vol.73 , pp. 1-13
    • Varret, M.1    Abifadel, M.2    Rabès, J.-P.3    Boileau, C.4
  • 8
    • 53149146015 scopus 로고    scopus 로고
    • What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
    • Humphries SE, Norbury G, Leigh S, et al. What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? Curr Opin Lipidol 2008; 19:362-368.
    • (2008) Curr Opin Lipidol , vol.19 , pp. 362-368
    • Humphries, S.E.1    Norbury, G.2    Leigh, S.3
  • 9
    • 84855501197 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: A model of care for Australasia
    • Watts GF, Sullivan DR, Poplawski N, et al. Familial hypercholesterolaemia: a model of care for Australasia. Atheroscler Suppl 2011; 12:221-263.
    • (2011) Atheroscler Suppl , vol.12 , pp. 221-263
    • Watts, G.F.1    Sullivan, D.R.2    Poplawski, N.3
  • 10
    • 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
  • 11
    • 77049105368 scopus 로고    scopus 로고
    • Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: A large cross-sectional study in the Netherlands
    • Pijlman AH, Huijgen R, Verhagen SN, et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis 2010; 209:189-194.
    • (2010) Atherosclerosis , vol.209 , pp. 189-194
    • Pijlman, A.H.1    Huijgen, R.2    Verhagen, S.N.3
  • 12
    • 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 2010; 5:e9220.
    • (2010) PLoS One , vol.5
    • Huijgen, R.1    Kindt, I.2    Verhoeven, S.B.3
  • 13
    • 77954956771 scopus 로고    scopus 로고
    • Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia
    • Datta BN, McDowell IFW, Rees A. Integrating provision of specialist lipid services with cascade testing for familial hypercholesterolaemia. Curr Opin Lipidol 2010; 21:366-371.
    • (2010) Curr Opin Lipidol , vol.21 , pp. 366-371
    • Datta, B.N.1    McDowell, I.F.W.2    Rees, A.3
  • 14
    • 0027301629 scopus 로고
    • Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
    • Williams RR, Hunt SC, Schumacher C, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993; 72:171-176.
    • (1993) Am J Cardiol , vol.72 , pp. 171-176
    • Williams, R.R.1    Hunt, S.C.2    Schumacher, C.3
  • 18
    • 77957874149 scopus 로고    scopus 로고
    • Defining the challenges of familial hypercholesterolemia: Introduction
    • Hopkins PN. Defining the challenges of familial hypercholesterolemia: introduction. J Clin Lipidol 2010; 4:342-345.
    • (2010) J Clin Lipidol , vol.4 , pp. 342-345
    • Hopkins, P.N.1
  • 19
    • 77957880779 scopus 로고    scopus 로고
    • Defining the challenges of FH screening for familial hypercholesterolemia
    • Defesche JC. Defining the challenges of FH screening for familial hypercholesterolemia. J Clin Lipidol 2010; 4:338-341.
    • (2010) J Clin Lipidol , vol.4 , pp. 338-341
    • Defesche, J.C.1
  • 20
    • 79961046340 scopus 로고    scopus 로고
    • The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries
    • Aarden E, Van Hoyweghen I, Horstman K. The paradox of public health genomics: definition and diagnosis of familial hypercholesterolaemia in three European countries. Scand J Public Health 2011; 39:634-639.
    • (2011) Scand J Public Health , vol.39 , pp. 634-639
    • Aarden, E.1    Van Hoyweghen, I.2    Horstman, K.3
  • 21
    • 79957977001 scopus 로고    scopus 로고
    • Array-based resequencing for mutations causing familial hypercholesterolemia
    • Chiou K-R, Charng M-J, Chang H-M. Array-based resequencing for mutations causing familial hypercholesterolemia. Atherosclerosis 2011; 216:383-389.
    • (2011) Atherosclerosis , vol.216 , pp. 383-389
    • Chiou, K.-R.1    Charng, M.-J.2    Chang, H.-M.3
  • 22
    • 79955536646 scopus 로고    scopus 로고
    • An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
    • Dusková L, Kopecková L, Jansová E, et al. An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia. Atherosclerosis 2011; 216:139-145.
    • (2011) Atherosclerosis , vol.216 , pp. 139-145
    • Dusková, L.1    Kopecková, L.2    Jansová, E.3
  • 23
    • 84857035544 scopus 로고    scopus 로고
    • Molecular characterization of familial hypercholesterolemia in Spain
    • Palacios L, Grandoso L, Cuevas N, et al. Molecular characterization of familial hypercholesterolemia in Spain. Atherosclerosis 2012; 221:137-142.
    • (2012) Atherosclerosis , vol.221 , pp. 137-142
    • Palacios, L.1    Grandoso, L.2    Cuevas, N.3
  • 24
    • 79953066017 scopus 로고    scopus 로고
    • Molecular basis of autosomal dominant hypercholesterolemia: Assessment in a large cohort of hypercholesterolemic children
    • van der Graaf A, Avis HJ, Kusters DM, et al. Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation 2011; 123:1167-1173.
    • (2011) Circulation , vol.123 , pp. 1167-1173
    • Van Der Graaf, A.1    Avis, H.J.2    Kusters, D.M.3
  • 25
    • 79960250474 scopus 로고    scopus 로고
    • ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS)
    • Catapano AL, Reiner Z, De Backer G, et al. ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Atherosclerosis 2011; 217 (Suppl. 1):S1-S44.
    • (2011) Atherosclerosis , vol.217 , Issue.SUPPL. 1
    • Catapano, A.L.1    Reiner, Z.2    De Backer, G.3
  • 26
    • 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; 5:133-140.
    • (2011) J Clin Lipidol , vol.5 , pp. 133-140
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3
  • 27
    • 79956288028 scopus 로고    scopus 로고
    • Treatment of adults with familial hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Robinson JG, Goldberg AC. Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5:S18-S29.
    • (2011) J Clin Lipidol , vol.5
    • Robinson, J.G.1    Goldberg, A.C.2
  • 28
    • 79956263939 scopus 로고    scopus 로고
    • Pediatric aspects of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Daniels SR, Gidding SS, de Ferranti SD. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5:S30-S37.
    • (2011) J Clin Lipidol , vol.5
    • Daniels, S.R.1    Gidding, S.S.2    De Ferranti, S.D.3
  • 29
    • 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. 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
    • Ito, M.K.1    McGowan, M.P.2    Moriarty, P.M.3
  • 30
    • 79956265502 scopus 로고    scopus 로고
    • Future issues, public policy, and public awareness of familial hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • Goldberg AC, Robinson JG, Cromwell WC, et al. Future issues, public policy, and public awareness of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5 (3 Suppl.):S46-S51.
    • (2011) J Clin Lipidol , vol.5 , Issue.3 SUPPL.
    • Goldberg, A.C.1    Robinson, J.G.2    Cromwell, W.C.3
  • 31
    • 48249093075 scopus 로고    scopus 로고
    • Lipid screening and cardiovascular health in childhood
    • and the Committee on Nutrition
    • Daniels SR, Greer FR; and the Committee on Nutrition. Lipid screening and cardiovascular health in childhood. Pediatrics 2008; 122:198-208.
    • (2008) Pediatrics , vol.122 , pp. 198-208
    • Daniels, S.R.1    Greer, F.R.2
  • 32
    • 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; National Heart, Lung, and Blood Institute
    • Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents; National Heart, Lung, and Blood Institute. Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics 2011; 128(Suppl. 5):S213-S256.
    • (2011) Pediatrics , vol.128 , Issue.SUPPL. 5
  • 33
    • 84855987839 scopus 로고    scopus 로고
    • Universal screening and drug treatment of dyslipidemia in children and adolescents
    • Psaty BM, Rivara FP. Universal screening and drug treatment of dyslipidemia in children and adolescents. JAMA 2012; 307:257-258.
    • (2012) JAMA , vol.307 , pp. 257-258
    • Psaty, B.M.1    Rivara, F.P.2
  • 34
    • 84856015484 scopus 로고    scopus 로고
    • Is universal pediatric lipid screening justified?
    • Gillman MW, Daniels SR. Is universal pediatric lipid screening justified? JAMA 2012; 307:259-260.
    • (2012) JAMA , vol.307 , pp. 259-260
    • Gillman, M.W.1    Daniels, S.R.2
  • 35
    • 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
    • patent 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 patent organization. Atherosclerosis 2011; 218:272-280.
    • (2011) Atherosclerosis , vol.218 , pp. 272-280
    • Descamps, O.S.1    Tenoutasse, S.2    Stephenne, X.3
  • 36
    • 84857234423 scopus 로고    scopus 로고
    • Paediatric screening for hypercholesterolaemia in Europe
    • Kusters DM, De Beaufort C, Widhalm K, et al. Paediatric screening for hypercholesterolaemia in Europe. Arch Dis Child 2012; 97:272-276.
    • (2012) Arch Dis Child , vol.97 , pp. 272-276
    • Kusters, D.M.1    De Beaufort, C.2    Widhalm, K.3
  • 37
    • 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
  • 38
    • 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 Part A 2012; 158A:78-84.
    • (2012) Am J Med Genet Part A , vol.158 A , pp. 78-84
    • Morris, J.K.1    Wald, D.S.2    Wald, N.J.3
  • 39
    • 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 2007; 116:664-668.
    • (2007) Circulation , vol.116 , pp. 664-668
    • Rodenburg, J.1    Vissers, M.N.2    Wiegman, A.3
  • 40
    • 79951968300 scopus 로고    scopus 로고
    • Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
    • doi:10.1371/journal.pone.0016721
    • Leren TP, Berge KE. Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated. PLoS ONE 2011; 6:e16721; doi:10.1371/journal.pone.0016721.
    • (2011) PLoS ONE , vol.6
    • Leren, T.P.1    Berge, K.E.2
  • 41
    • 0037126526 scopus 로고    scopus 로고
    • 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) final report
    • National Cholesterol Education Program (NCEP)
    • National Cholesterol Education Program (NCEP). 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) final report. Circulation 2002; 106:3143-3421.
    • (2002) Circulation , vol.106 , pp. 3143-3421
  • 42
    • 79953045746 scopus 로고    scopus 로고
    • Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias
    • Kwiterovich PO. Clinical implications of the molecular basis of familial hypercholesterolemia and other inherited dyslipidemias. Circulation 2011; 123:1153-1155.
    • (2011) Circulation , vol.123 , pp. 1153-1155
    • Kwiterovich, P.O.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.