메뉴 건너뛰기




Volumn 243, Issue 1, 2015, Pages 328-333

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes

Author keywords

Aortic stenosis; Apheresis; ARH mutations; LDLR mutations; Statins

Indexed keywords

ANTILIPEMIC AGENT; CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; HYPOCHOLESTEROLEMIC AGENT; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

EID: 84943329834     PISSN: 00219150     EISSN: 18791484     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2015.09.029     Document Type: Article
Times cited : (39)

References (41)
  • 1
    • 0020731284 scopus 로고
    • Classics in arteriosclerosis research: on experimental cholesterin steatosis and its significance in the origin of some pathological processes, translated by Mary Z. Pelias
    • Anitschkow N., Chalatow S. Classics in arteriosclerosis research: on experimental cholesterin steatosis and its significance in the origin of some pathological processes, translated by Mary Z. Pelias. Arteriosclerosis 1913, 1983(3):178-182.
    • (1913) Arteriosclerosis , vol.1983 , Issue.3 , pp. 178-182
    • Anitschkow, N.1    Chalatow, S.2
  • 2
    • 0026762461 scopus 로고
    • Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom
    • Webb J.C., Sun X.M., McCarthy S.N., et al. Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. J. Lipid Res. 1992, 33:689-698.
    • (1992) J. Lipid Res. , vol.33 , pp. 689-698
    • Webb, J.C.1    Sun, X.M.2    McCarthy, S.N.3
  • 3
    • 0031743631 scopus 로고    scopus 로고
    • Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia
    • Rallidis L., Naoumova R.P., Thompson G.R., Nihoyannopoulos P. Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. Heart 1998, 80:583-590.
    • (1998) Heart , vol.80 , pp. 583-590
    • Rallidis, L.1    Naoumova, R.P.2    Thompson, G.R.3    Nihoyannopoulos, P.4
  • 4
    • 0001584433 scopus 로고
    • Angina pectoris in hereditary xanthomatosis
    • Muller C. Angina pectoris in hereditary xanthomatosis. Arch. Intern. Med. 1939, 64:675-700.
    • (1939) Arch. Intern. Med. , vol.64 , pp. 675-700
    • Muller, C.1
  • 5
    • 0018590304 scopus 로고
    • The LDL receptor locus and the genetics of familial hypercholesterolemia
    • Goldstein J.L., Brown M.S. The LDL receptor locus and the genetics of familial hypercholesterolemia. Annu. Rev. Genet. 1979, 13:259-289.
    • (1979) Annu. Rev. Genet. , vol.13 , pp. 259-289
    • Goldstein, J.L.1    Brown, M.S.2
  • 6
    • 79956267846 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients
    • Goldberg A.C., Hopkins P.N., Toth P.P., et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients. 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
  • 7
    • 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 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. 2013, 34:3478-3490.
    • (2013) Eur. Heart J. , vol.34 , pp. 3478-3490
    • Nordestgaard, B.G.1    Chapman, M.J.2    Humphries, S.E.3
  • 8
    • 84924366648 scopus 로고    scopus 로고
    • Homozygous autosomal dominant hypercholesterolemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome
    • Sjouke B., Kusters M., Kindt I., et al. Homozygous autosomal dominant hypercholesterolemia 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, M.2    Kindt, I.3
  • 9
    • 0022345240 scopus 로고
    • Improved survival of patients with homozygous familial hypercholesterolaemia treated with plasma exchange
    • Thompson G.R., Miller J.P., Breslow J.L. Improved survival of patients with homozygous familial hypercholesterolaemia treated with plasma exchange. Br. Med. J. Clin. Res. Ed. 1985, 291:1671-1673.
    • (1985) Br. Med. J. Clin. Res. Ed. , vol.291 , pp. 1671-1673
    • Thompson, G.R.1    Miller, J.P.2    Breslow, J.L.3
  • 10
    • 81355160365 scopus 로고    scopus 로고
    • Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy
    • Raal F.J., Pilcher G.J., Panz V.R., et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering 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
  • 11
    • 84928898081 scopus 로고    scopus 로고
    • Managing homozygous familial hypercholesterolaemia from cradle to grave
    • Thompson G.R. Managing homozygous familial hypercholesterolaemia from cradle to grave. Atheroscler. Suppl. 2015, 18:16-20.
    • (2015) Atheroscler. Suppl. , vol.18 , pp. 16-20
    • Thompson, G.R.1
  • 12
    • 84927764140 scopus 로고    scopus 로고
    • Lipoprotein apheresis in the management of familial hypercholesterolaemia: historical perspective and recent advances
    • Stefanutti C., Thompson G.R. Lipoprotein apheresis in the management of familial hypercholesterolaemia: historical perspective and recent advances. Curr. Atheroscler. Rep. 2014, 17:465-474.
    • (2014) Curr. Atheroscler. Rep. , vol.17 , pp. 465-474
    • Stefanutti, C.1    Thompson, G.R.2
  • 13
    • 84943264674 scopus 로고    scopus 로고
    • Plasma cholesterol as a cause of coronary heart disease (CHD); the cholesterol-CHD hypothesis
    • The Wellcome Trust, London, L.A. Reynolds, E.M. Tansey (Eds.)
    • Myant N.B. Plasma cholesterol as a cause of coronary heart disease (CHD); the cholesterol-CHD hypothesis. Wellcome Witnesses to Twentieth Century Medicine 2006, vol. 27:xxi-xxv. The Wellcome Trust, London. L.A. Reynolds, E.M. Tansey (Eds.).
    • (2006) Wellcome Witnesses to Twentieth Century Medicine , vol.27 , pp. 21-25
    • Myant, N.B.1
  • 14
    • 0016704825 scopus 로고
    • Plasma exchange in the management of homozygous familial hypercholesterolaemia
    • Thompson G.R., Lowenthal R., Myant N.B. Plasma exchange in the management of homozygous familial hypercholesterolaemia. Lancet 1975, 1:1208-1211.
    • (1975) Lancet , vol.1 , pp. 1208-1211
    • Thompson, G.R.1    Lowenthal, R.2    Myant, N.B.3
  • 15
    • 0024336424 scopus 로고
    • Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors
    • Soutar A.K., Knight B.L., Patel D.D. Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. Proc. Natl. Acad. Sci. U. S. A. 1989, 86:4166-4170.
    • (1989) Proc. Natl. Acad. Sci. U. S. A. , vol.86 , pp. 4166-4170
    • Soutar, A.K.1    Knight, B.L.2    Patel, D.D.3
  • 16
    • 0026762461 scopus 로고
    • Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia
    • Webb J.C., Sun X.M., Patel D.D., McCarthy S.N., Knight B.L., Soutar A.K. Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia. J. Lipid Res. 1992, 33:689-698.
    • (1992) J. Lipid Res. , vol.33 , pp. 689-698
    • Webb, J.C.1    Sun, X.M.2    Patel, D.D.3    McCarthy, S.N.4    Knight, B.L.5    Soutar, A.K.6
  • 17
    • 0026741899 scopus 로고
    • Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom
    • Sun X.M., Webb J.C., Gudnason V., et al. Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler. Thromb. 1992, 12:762-770.
    • (1992) Arterioscler. Thromb. , vol.12 , pp. 762-770
    • Sun, X.M.1    Webb, J.C.2    Gudnason, V.3
  • 18
    • 0027495529 scopus 로고
    • Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia
    • Feher M.D., Webb J.C., Patel D.D., et al. Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia. Atherosclerosis 1993, 103:171-180.
    • (1993) Atherosclerosis , vol.103 , pp. 171-180
    • Feher, M.D.1    Webb, J.C.2    Patel, D.D.3
  • 19
    • 0032747151 scopus 로고    scopus 로고
    • Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia
    • Bourbon M., Fowler A.M., Sun X.M., Soutar A.K. Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia. Clin. Genet. 1999, 56:225-231.
    • (1999) Clin. Genet. , vol.56 , pp. 225-231
    • Bourbon, M.1    Fowler, A.M.2    Sun, X.M.3    Soutar, A.K.4
  • 20
    • 0036897341 scopus 로고    scopus 로고
    • Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1
    • Eden E.R., Patel D.D., Sun X.M., et al. Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. J. Clin. Invest 2002, 110:1695-1702.
    • (2002) J. Clin. Invest , vol.110 , pp. 1695-1702
    • Eden, E.R.1    Patel, D.D.2    Sun, X.M.3
  • 21
    • 0028841473 scopus 로고
    • Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia
    • Gudnason V., Muller D.P., Lloyd J.K., Humphries S.E. Response to drugs and diet in a compound heterozygote for familial hypercholesterolaemia. Arch. Dis. Child. 1995, 73:538-540.
    • (1995) Arch. Dis. Child. , vol.73 , pp. 538-540
    • Gudnason, V.1    Muller, D.P.2    Lloyd, J.K.3    Humphries, S.E.4
  • 22
    • 2342454322 scopus 로고    scopus 로고
    • Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment
    • Naoumova R.P., Neuwirth C., Lee P., et al. Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment. Atherosclerosis 2004, 174:165-172.
    • (2004) Atherosclerosis , vol.174 , pp. 165-172
    • Naoumova, R.P.1    Neuwirth, C.2    Lee, P.3
  • 23
    • 4043093508 scopus 로고    scopus 로고
    • Current management of severe homozygous hypercholesterolaemias
    • Nauomova R.P., Thompson G.R., Soutar A.K. Current management of severe homozygous hypercholesterolaemias. Curr. Opin. Lipidol. 2004, 15:413-422.
    • (2004) Curr. Opin. Lipidol. , vol.15 , pp. 413-422
    • Nauomova, R.P.1    Thompson, G.R.2    Soutar, A.K.3
  • 24
    • 0018822386 scopus 로고
    • Assessment of long-term plasma exchange for familial hypercholesterolaemia
    • Thompson G.R., Myant N.B., Kilpatrick D., et al. Assessment of long-term plasma exchange for familial hypercholesterolaemia. Br. Heart J. 1980, 43:680-688.
    • (1980) Br. Heart J. , vol.43 , pp. 680-688
    • Thompson, G.R.1    Myant, N.B.2    Kilpatrick, D.3
  • 25
    • 0019227966 scopus 로고
    • Cardiovascular complications of homozygous familial hypercholesterolaemia
    • Allen J.M., Thompson G.R., Myant N.B., Steiner R., Oakley C.M. Cardiovascular complications of homozygous familial hypercholesterolaemia. Br. Heart J. 1980, 44:36l-368.
    • (1980) Br. Heart J. , vol.44 , pp. 36l-368
    • Allen, J.M.1    Thompson, G.R.2    Myant, N.B.3    Steiner, R.4    Oakley, C.M.5
  • 26
    • 0030716524 scopus 로고    scopus 로고
    • Decreased production of low density lipoprotein production by atorvastatin after apheresis in homozygous familial hypercholesterolaemia
    • Marais A.D., Naoumova R.P., Firth J.C., et al. Decreased production of low density lipoprotein production by atorvastatin after apheresis in homozygous familial hypercholesterolaemia. J. Lipid Res. 1997, 38:2071-2078.
    • (1997) J. Lipid Res. , vol.38 , pp. 2071-2078
    • Marais, A.D.1    Naoumova, R.P.2    Firth, J.C.3
  • 27
    • 0014071412 scopus 로고
    • Studies in the metabolism of cholesterol in subjects with normal plasma cholesterol levels and in patients with essential hypercholesterolaemia
    • Lewis B., Myant N.B. Studies in the metabolism of cholesterol in subjects with normal plasma cholesterol levels and in patients with essential hypercholesterolaemia. Clin. Sci. 1967, 32:201-213.
    • (1967) Clin. Sci. , vol.32 , pp. 201-213
    • Lewis, B.1    Myant, N.B.2
  • 29
    • 0027096986 scopus 로고
    • Normal levels of lipoproteins including lipoprotein (a) after liver-heart transplantation in a patient with homozygous familial hypercholesterolaemia
    • Barbir M., Khagani A., Kehely A., et al. Normal levels of lipoproteins including lipoprotein (a) after liver-heart transplantation in a patient with homozygous familial hypercholesterolaemia. Q. J. Med. 1992, 85:807-812.
    • (1992) Q. J. Med. , vol.85 , pp. 807-812
    • Barbir, M.1    Khagani, A.2    Kehely, A.3
  • 30
    • 0021923637 scopus 로고
    • Homozygous familial hypercholesterolaemia with supravalvar aortic stenosis treated by surgery
    • Hendry W.G., Seed M. Homozygous familial hypercholesterolaemia with supravalvar aortic stenosis treated by surgery. J. R. Soc. Med. 1985, 78:334-335.
    • (1985) J. R. Soc. Med. , vol.78 , pp. 334-335
    • Hendry, W.G.1    Seed, M.2
  • 31
    • 34648860539 scopus 로고    scopus 로고
    • Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic
    • Tosi I., Toledo-Leiva P., Neuwirth C., Naoumova R.P., Soutar A.K. Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Atheroscleosis 2007, 194:102-111.
    • (2007) Atheroscleosis , vol.194 , pp. 102-111
    • Tosi, I.1    Toledo-Leiva, P.2    Neuwirth, C.3    Naoumova, R.P.4    Soutar, A.K.5
  • 32
    • 84943311022 scopus 로고    scopus 로고
    • Demographic, genetic, lipidological and cardiovascular features of the Hammersmith Hospital cohort of familial hypercholesterolaemia homozygotes
    • Data in Brief (submitted).
    • Thompson GR, Seed M, Naoumova RP, et al., Demographic, genetic, lipidological and cardiovascular features of the Hammersmith Hospital cohort of familial hypercholesterolaemia homozygotes. Data in Brief (submitted).
    • Thompson, G.R.1    Seed, M.2    Naoumova, R.P.3
  • 33
    • 84865837145 scopus 로고    scopus 로고
    • Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively
    • Ibrahim M., El-Hamamsy I., Barbir M., Yacoub M.H. Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20 years post-operatively. J. Cardiovasc. Transl. Res. 2012, 5:351-358.
    • (2012) J. Cardiovasc. Transl. Res. , vol.5 , pp. 351-358
    • Ibrahim, M.1    El-Hamamsy, I.2    Barbir, M.3    Yacoub, M.H.4
  • 34
    • 33748088504 scopus 로고    scopus 로고
    • Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison
    • Pisciotta L., Oliva C.P., Pes G.M., et al. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison. Atherosclerosis 2006, 188:398-405.
    • (2006) Atherosclerosis , vol.188 , pp. 398-405
    • Pisciotta, L.1    Oliva, C.P.2    Pes, G.M.3
  • 35
    • 0034931412 scopus 로고    scopus 로고
    • Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia
    • Real J.T., Chaves F.J., Martinez-Uso I., et al. Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia. Eur. Heart J. 2001, 22:465-471.
    • (2001) Eur. Heart J. , vol.22 , pp. 465-471
    • Real, J.T.1    Chaves, F.J.2    Martinez-Uso, I.3
  • 36
    • 0025365313 scopus 로고
    • Relation of serum lipoprotein (a) concentration and apolipoprotein (a) phenotype to coronary heart disease in patients with familial hypercholesterolemia
    • Seed M., Hopplicher F., Reaveley D., et al. Relation of serum lipoprotein (a) concentration and apolipoprotein (a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. N. Engl. J. Med. 1990, 322:1494-1499.
    • (1990) N. Engl. J. Med. , vol.322 , pp. 1494-1499
    • Seed, M.1    Hopplicher, F.2    Reaveley, D.3
  • 37
    • 84921277711 scopus 로고    scopus 로고
    • Impact of LDL apheresis on aortic root atheroma in children with homozygous familial hypercholesterolemia
    • Lefort B., Saheb S., Bruckert E., et al. Impact of LDL apheresis on aortic root atheroma in children with homozygous familial hypercholesterolemia. Atherosclerosis 2015, 239:158-162.
    • (2015) Atherosclerosis , vol.239 , pp. 158-162
    • Lefort, B.1    Saheb, S.2    Bruckert, E.3
  • 38
    • 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 H., 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.3
  • 39
    • 84934965790 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
    • Wiegman A., Gidding S.S., Watts G.F., 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
  • 40
    • 84871945617 scopus 로고    scopus 로고
    • Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study
    • Cuchel M., Meagher E.A., du Toit Theron H., et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study. Lancet 2013, 381:40-46.
    • (2013) Lancet , vol.381 , pp. 40-46
    • Cuchel, M.1    Meagher, E.A.2    du Toit Theron, H.3
  • 41
    • 84884562385 scopus 로고    scopus 로고
    • Lipoprotein apheresis for the treatment of familial hypercholesterolaemia
    • Walji S., Neuwirth C., Thompson G.R. Lipoprotein apheresis for the treatment of familial hypercholesterolaemia. Clin. Lipidol. 2013, 8:573-586.
    • (2013) Clin. Lipidol. , vol.8 , pp. 573-586
    • Walji, S.1    Neuwirth, C.2    Thompson, G.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.