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Volumn 27, Issue 4, 2016, Pages 388-397

A systematic review of current studies in patients with familial hypercholesterolemia by use of national familial hypercholesterolemia registries

Author keywords

cardiovascular disease; familial hypercholesterolemia; morbidity; mortality; registry studies

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR;

EID: 84963649271     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0000000000000300     Document Type: Review
Times cited : (19)

References (34)
  • 1
    • 0000600880 scopus 로고    scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Baudet AL, Sly WS, Valle D, editors. New York, NY: McGraw-Hill
    • Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Baudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York, NY: McGraw-Hill; 2001. pp. 2863-2913.
    • (2001) The Metabolic Basis of Inherited Disease , pp. 2863-2913
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 3
    • 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
  • 4
    • 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
  • 5
    • 10744233618 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
    • Civeira F. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004; 173:55-68.
    • (2004) Atherosclerosis , vol.173 , pp. 55-68
    • Civeira, F.1
  • 6
    • 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; 34:3478a-90a.
    • (2013) Eur Heart J , vol.34 , pp. 3478a-3490a
    • Nordestgaard, B.G.1    Chapman, M.J.2    Humphries, S.E.3
  • 7
    • 84923082408 scopus 로고    scopus 로고
    • Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
    • Do R, Stitziel NO, Won HH, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 2015; 518:102-106.
    • (2015) Nature , vol.518 , pp. 102-106
    • Do, R.1    Stitziel, N.O.2    Won, H.H.3
  • 8
    • 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
  • 9
    • 84978602750 scopus 로고    scopus 로고
    • Nasjonal kompetansetjeneste for familiær hyperkolesterolemi
    • [Accessed 20 December 2015]
    • Johansen D, Bogsrud MP, Holven KB. Nasjonal kompetansetjeneste for familiær hyperkolesterolemi. NKTforFH virksomhetsplan 2015; www. oslouniversitetssykehus. no/omoss-/avdelinger-/nasjonal-kompetansetjenestefor-barn-og-voksne-med-famili%c3%a6r-hyperkolesterolemi-og-andre-arveli ge-dyslipidemier-/Documents/NKTforFH%20virksomhetsplan. pdf [Accessed 20 December 2015]
    • (2015) NKTforFH Virksomhetsplan
    • Johansen, D.1    Bogsrud, M.P.2    Holven, K.B.3
  • 10
    • 78449281377 scopus 로고    scopus 로고
    • Efficacy and safety of more intensive lowering of LDL cholesterol: A meta-analysis of data from 170, 000 participants in 26 randomised trials
    • Baigent C, Blackwell L, Emberson J, et al. Efficacy and safety of more intensive lowering of LDL cholesterol: A meta-analysis of data from 170, 000 participants in 26 randomised trials. Lancet 2010; 376:1670-1681.
    • (2010) Lancet , vol.376 , pp. 1670-1681
    • Baigent, C.1    Blackwell, L.2    Emberson, J.3
  • 11
    • 0022571020 scopus 로고
    • Causes of death in patients with familial hypercholesterolemia
    • Mabuchi H, Miyamoto S, Ueda K, et al. Causes of death in patients with familial hypercholesterolemia. Atherosclerosis 1986; 61:1-6.
    • (1986) Atherosclerosis , vol.61 , pp. 1-6
    • Mabuchi, H.1    Miyamoto, S.2    Ueda, K.3
  • 12
    • 0025944056 scopus 로고
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Group SSCobotSBR
    • Group SSCobotSBR. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991; 303:893-896.
    • (1991) BMJ , vol.303 , pp. 893-896
  • 13
    • 0032890205 scopus 로고    scopus 로고
    • Mortality in treated heterozygous familial hypercholesterolaemia: Implications for clinical management
    • Group SSCobotSBR
    • Group SSCobotSBR. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999; 142:105-112.
    • (1999) Atherosclerosis , vol.142 , pp. 105-112
  • 14
    • 0034662322 scopus 로고    scopus 로고
    • Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: Prospective registry study
    • Neil HA, Hammond T, Huxley R, et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ 2000; 321:148.
    • (2000) BMJ , vol.321 , pp. 148
    • Neil, H.A.1    Hammond, T.2    Huxley, R.3
  • 15
    • 0034060201 scopus 로고    scopus 로고
    • Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia
    • Sijbrands EJ, Westendorp RG, Paola Lombardi M, et al. Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia. Atherosclerosis 2000; 149:421-425.
    • (2000) Atherosclerosis , vol.149 , pp. 421-425
    • Sijbrands, E.J.1    Westendorp, R.G.2    Paola Lombardi, M.3
  • 16
    • 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
  • 17
    • 0037229190 scopus 로고    scopus 로고
    • Risk of fatal stroke in patients with treated familial hypercholesterolemia: A prospective registry study
    • Huxley RR, Hawkins MH, Humphries SE, et al. Risk of fatal stroke in patients with treated familial hypercholesterolemia: A prospective registry study. Stroke 2003; 34:22-25.
    • (2003) Stroke , vol.34 , pp. 22-25
    • Huxley, R.R.1    Hawkins, M.H.2    Humphries, S.E.3
  • 18
    • 10744221851 scopus 로고    scopus 로고
    • Comparison of the risk of fatal coronary heart disease in treated xanthomatous and nonxanthomatous heterozygous familial hypercholesterolaemia: A prospective registry study
    • Neil HA, Huxley RR, Hawkins MM, et al. Comparison of the risk of fatal coronary heart disease in treated xanthomatous and nonxanthomatous heterozygous familial hypercholesterolaemia: A prospective registry study. Atherosclerosis 2003; 170:73-78.
    • (2003) Atherosclerosis , vol.170 , pp. 73-78
    • Neil, H.A.1    Huxley, R.R.2    Hawkins, M.M.3
  • 19
    • 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, 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
  • 20
    • 9644287995 scopus 로고    scopus 로고
    • The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
    • Jansen AC, van Aalst-Cohen ES, Tanck MW, et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med 2004; 256:482-490.
    • (2004) J Intern Med , vol.256 , pp. 482-490
    • Jansen, A.C.1    Van Aalst-Cohen, E.S.2    Tanck, M.W.3
  • 21
    • 0842309234 scopus 로고    scopus 로고
    • Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia
    • Mohrschladt MF, Westendorp RG, Gevers Leuven JA, et al. Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia. Atherosclerosis 2004; 172:329-335.
    • (2004) Atherosclerosis , vol.172 , pp. 329-335
    • Mohrschladt, M.F.1    Westendorp, R.G.2    Gevers Leuven, J.A.3
  • 22
    • 14944364066 scopus 로고    scopus 로고
    • Noncoronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: A prospective registry study
    • Neil HA, Hawkins MM, Durrington PN, et al. Noncoronary heart disease mortality and risk of fatal cancer in patients with treated heterozygous familial hypercholesterolaemia: A prospective registry study. Atherosclerosis 2005; 179:293-297.
    • (2005) Atherosclerosis , vol.179 , pp. 293-297
    • Neil, H.A.1    Hawkins, M.M.2    Durrington, P.N.3
  • 23
    • 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
  • 24
    • 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
  • 25
    • 59149086404 scopus 로고    scopus 로고
    • Long-term probucol treatment prevents secondary cardiovascular events: A cohort study of patients with heterozygous familial hypercholesterolemia in Japan
    • Yamashita S, Hbujo H, Arai H, et al. Long-term probucol treatment prevents secondary cardiovascular events: A cohort study of patients with heterozygous familial hypercholesterolemia in Japan. J Atheroscler Thromb 2008; 15:292-303.
    • (2008) J Atheroscler Thromb , vol.15 , pp. 292-303
    • Yamashita, S.1    Hbujo, H.2    Arai, H.3
  • 26
    • 52049109169 scopus 로고    scopus 로고
    • Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
    • Alonso R, Mata N, Castillo S, et al. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008; 200:315-321.
    • (2008) Atherosclerosis , vol.200 , pp. 315-321
    • Alonso, R.1    Mata, N.2    Castillo, S.3
  • 27
    • 82955189685 scopus 로고    scopus 로고
    • Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality
    • Versmissen J, Botden IP, Huijgen R, et al. Maternal inheritance of familial hypercholesterolemia caused by the V408M low-density lipoprotein receptor mutation increases mortality. Atherosclerosis 2011; 219:690-693.
    • (2011) Atherosclerosis , vol.219 , pp. 690-693
    • Versmissen, J.1    Botden, I.P.2    Huijgen, R.3
  • 28
    • 80053984968 scopus 로고    scopus 로고
    • Pregnancy outcomes in familial hypercholesterolemia: A registry-based study
    • Toleikyte I, Retterstol K, Leren TP, et al. 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
  • 29
    • 79958166529 scopus 로고    scopus 로고
    • Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART)
    • Mata N, Alonso R, Badimon L, Padro T, et al. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis 2011; 10:94.
    • (2011) Lipids Health Dis , vol.10 , pp. 94
    • Mata, N.1    Alonso, R.2    Badimon, L.3    Padro, T.4
  • 30
    • 81355160365 scopus 로고    scopus 로고
    • Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipidlowering therapy
    • Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipidlowering therapy. Circulation 2011; 124:2202-2207.
    • (2011) Circulation , vol.124 , pp. 2202-2207
    • Raal, F.J.1    Pilcher, G.J.2    Panz, V.R.3
  • 31
    • 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
  • 32
    • 84931028781 scopus 로고    scopus 로고
    • Mortality among patients with familial hypercholesterolemia: A registry-based study in Norway
    • Mundal L, Sarancic M, Ose L, et al. Mortality among patients with familial hypercholesterolemia: A registry-based study in Norway. 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
  • 33
    • 84966642427 scopus 로고    scopus 로고
    • Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death
    • Krogh HW, Mundal L, Holven KB, et al. Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death. Eur Heart J 2015. doi: 10. 1093/eurheartj/ehv602.
    • (2015) Eur Heart J
    • Krogh, H.W.1    Mundal, L.2    Holven, K.B.3
  • 34
    • 84878995402 scopus 로고    scopus 로고
    • Role of international registries in enhancing the care of familial hypercholesterolaemia
    • Hammond E, Watts GF, Rubinstein Y, et al. Role of international registries in enhancing the care of familial hypercholesterolaemia. Int J Evid Based Healthc 2013; 11:134-139.
    • (2013) Int J Evid Based Healthc , vol.11 , pp. 134-139
    • Hammond, E.1    Watts, G.F.2    Rubinstein, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.