메뉴 건너뛰기




Volumn 25, Issue 3, 2014, Pages 183-188

What is new in familial hypercholesterolemia?

Author keywords

Atherosclerosis; familial hypercholesterolemia; genes; LDL; proprotein convertase subtilisin kexin type 9

Indexed keywords

ALIROCUMAB; APOLIPOPROTEIN B; EVOLOCUMAB; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOMITAPIDE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; MIPOMERSEN; PLACEBO; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; PROTEINASE; UNCLASSIFIED DRUG;

EID: 84900562085     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0000000000000073     Document Type: Review
Times cited : (25)

References (34)
  • 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
    • Nordestgaard BG, Chapman MJ, Humphri es 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; 34:3478-3490.
    • (2013) Eur Heart J , vol.34 , pp. 3478-3490
    • 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 GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97:3956-3964.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 3956-3964
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 3
    • 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
  • 4
    • 33750597734 scopus 로고    scopus 로고
    • Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice
    • Lagace TA, Curtis DE, Garuti R, et al. Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. J Clin Invest 2006; 116:2995-3005.
    • (2006) J Clin Invest , vol.116 , pp. 2995-3005
    • Lagace, T.A.1    Curtis, D.E.2    Garuti, R.3
  • 5
    • 84879315149 scopus 로고    scopus 로고
    • Elevated PCSK9 levels in untreated patients with heterozygous or homozygous familial hypercholesterolemia and the response to high-dose statin therapy
    • Raal F, Panz V, Immelman A, Pilcher G. Elevated PCSK9 levels in untreated patients with heterozygous or homozygous familial hypercholesterolemia and the response to high-dose statin therap y. J Am Heart Assoc 2013; 2:e000028.
    • (2013) J Am Heart Assoc , vol.2
    • Raal, F.1    Panz, V.2    Immelman, A.3    Pilcher, G.4
  • 6
    • 84887030875 scopus 로고    scopus 로고
    • Hepatic cholesterol homeostasis: Is the lowdensity lipoprotein pathway a regulatory or a shunt pathway
    • Sniderman AD, Qi Y, Ma CI, et al. Hepatic cholesterol homeostasis: Is the lowdensity lipoprotein pathway a regulatory or a shunt pathway Arterioscler Thr omb Vasc Biol 2013; 33:2481-2490.
    • (2013) Arterioscler Thromb Vasc Biol , vol.33 , pp. 2481-2490
    • Sniderman, A.D.1    Qi, Y.2    Ma, C.I.3
  • 7
    • 2942518215 scopus 로고    scopus 로고
    • Impaired intravascular triglyceride lipolysis constitutes a marker of clinical outcome in patients with stable angina unde rgoing secondary prevention treatment: A long-term follow-up study
    • Sposito AC, Lemos PA, Santos RD, et al. Impaired intravascular triglyceride lipolysis constitutes a marker of clinical outcome in patients with stable angina unde rgoing secondary prevention treatment: A long-term follow-up study. J Am Coll Cardiol 2004; 43:2225-2232.
    • (2004) J Am Coll Cardiol , vol.43 , pp. 2225-2232
    • Sposito, A.C.1    Lemos, P.A.2    Santos, R.D.3
  • 8
    • 84857029783 scopus 로고    scopus 로고
    • The removal from plasma of chylomicrons and remnants is reduced in heterozygous familial hypercholesterolemia subjects with identified LDL receptor mutations: Study with artificial emulsions
    • Carneiro MM, Miname MH, Gagliardi AC, et al. The removal from plasma of chylomicrons a nd remnants is reduced in heterozygous familial hypercholesterolemia subjects with identified LDL receptor mutations: Study with artificial emulsions. Atherosclerosis 2012; 221:268-274.
    • (2012) Atherosclerosis , vol.221 , pp. 268-274
    • Carneiro, M.M.1    Miname, M.H.2    Gagliardi, A.C.3
  • 9
    • 84863987783 scopus 로고    scopus 로고
    • Reverse cholesterol transport in familial hypercholesterolemia
    • Guerin M. Reverse cholesterol transport in familial hypercholesterolemia. Curr Opin Lipidol 2012; 23:377-385.
    • (2012) Curr Opin Lipidol , vol.23 , pp. 377-385
    • Guerin, M.1
  • 10
    • 84886603461 scopus 로고    scopus 로고
    • Cholesteryl ester transfer protein inhibitors in the treatment of dyslipidemia: A systematic review and meta-analysis
    • Li C, Zhang W, Zhou F, et al. Cholesteryl ester transfer protein inhibitors in the treatment of dyslipidemia: A systematic review and meta-analysis. PLoS One 2013; 8:e77049.
    • (2013) PLoS One , vol.8
    • Li, C.1    Zhang, W.2    Zhou, F.3
  • 11
    • 84880570559 scopus 로고    scopus 로고
    • Transfer of lipids to high-density lipoprotein (HDL) is altered in patients with familial hypercholesterolemia
    • Martinez LR, Sa ntos RD, Miname MH, et al. Transfer of lipids to high-density lipoprotein (HDL) is altered in patients with familial hypercholesterolemia. Metabolism 2013; 62:1061-1064.
    • (2013) Metabolism , vol.62 , pp. 1061-1064
    • Martinez, L.R.1    Santos, R.D.2    Miname, M.H.3
  • 12
    • 84893647246 scopus 로고    scopus 로고
    • Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
    • Watts GF,Gidding S,Wierzbicki AS,et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol, 2014, 171, 309-325.
    • (2014) Int J Cardiol , vol.171 , pp. 309-325
    • Watts, G.F.1    Gidding, S.2    Wierzbicki, A.S.3
  • 13
    • 79955017150 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: The lipids or the genes
    • Fahed A, Nemer GM. Famili al hypercholesterolemia: The lipids or the genes Nutr Metab (Lond) 2011; 8:23.
    • (2011) Nutr Metab (Lond) , vol.8 , pp. 23
    • Fahed, A.1    Nemer, G.M.2
  • 14
    • 84890050247 scopus 로고    scopus 로고
    • The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia
    • Vandrovcova J, Thomas ER, Atanur SS, et al. The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. Genet Med 2013; 15:948-957.
    • (2013) Genet Med , vol.15 , pp. 948-957
    • Vandrovcova, J.1    Thomas, E.R.2    Atanur, S.S.3
  • 15
    • 77953949143 scopus 로고    scopus 로고
    • Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
    • Taylor A, Wang D, Patel K, et al. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade p roject. Clin Genet 2010; 77:572-580.
    • (2010) Clin Genet , vol.77 , pp. 572-580
    • Taylor, A.1    Wang, D.2    Patel, K.3
  • 16
    • 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 PJ, 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; 381:1293-1301.
    • (2013) Lancet , vol.381 , pp. 1293-1301
    • Talmud, P.J.1    Shah, S.2    Whittall, R.3
  • 17
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466:707-713.
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1    Musunuru, K.2    Smith, A.V.3
  • 18
    • 58149505978 scopus 로고    scopus 로고
    • Family tracing to identify patients with familial hypercholesterolaemia: The second audit of the department of health familial hypercholesterolaemia cascade testing project
    • Hadfield SG, Horara S, Starr BJ, et al. Family tracing to identify patients with familial hypercholesterolaemia: The second audit of the Department of Health familial hypercholesterolaemia cascade testing project. Ann Clin Biochem 2009; 46:24-32.
    • (2009) Ann Clin Biochem , vol.46 , pp. 24-32
    • Hadfield, S.G.1    Horara, S.2    Starr, B.J.3
  • 19
    • 84902576469 scopus 로고    scopus 로고
    • ACC/AHA guideline on the treatment of blood choles terol to reduce atherosclerotic cardiovascular risk in adults: A report of the american college of cardiology/american heart association task force on practice guidelines
    • doi: 10.1016/j.jacc.2013.11.002. Epub ahead of print
    • Stone NJ, Robinson J, Lichtenstein AH, et al. 2013 ACC/AHA Guideline on the Treatment of Blood Choles terol to Reduce Atherosclerotic Cardiovascular Risk in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2013. doi: 10.1016/j.jacc.2013.11.002. [Epub ahead of print]
    • (2013) J Am Coll Cardiol 2013
    • Stone, N.J.1    Robinson, J.2    Lichtenstein, A.H.3
  • 20
    • 0033539313 scopus 로고    scopus 로고
    • Influence of maternal hypercholesterolaemia during pregnancy on progression of early atherosclerotic lesions in childhood: Fate of Early Lesions in Children (FELIC ) study
    • Napoli C, Glass CK, Witztum JL, et al. Influence of maternal hypercholesterolaemia during pregnancy on progression of early atherosclerotic lesions in childhood: Fate of Early Lesions in Children (FELIC ) study. Lancet 1999; 354:1234-1241.
    • (1999) Lancet , vol.354 , pp. 1234-1241
    • Napoli, C.1    Glass, C.K.2    Witztum, J.L.3
  • 21
    • 0029899325 scopus 로고    scopus 로고
    • Pregnancy related changes in some cardiovascular risk factors
    • Berge LN, Arnesen E, Forsdahl A. Pregnancy related changes in some cardiovascular risk factors. Acta Obstet Gynecol Scand 1996; 75:439-442.
    • (1996) Acta Obstet Gynecol Scand , vol.75 , pp. 439-442
    • Berge, L.N.1    Arnesen, E.2    Forsdahl, A.3
  • 22
    • 84883204563 scopus 로고    scopus 로고
    • Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk
    • Kusters DM, Avis HJ, Braamskamp MJ, et al. Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk. J Lipid Res 2013; 54:2543-2549.
    • (2013) J Lipid Res , vol.54 , pp. 2543-2549
    • Kusters, D.M.1    Avis, H.J.2    Braamskamp, M.J.3
  • 23
    • 78649720717 scopus 로고    scopus 로고
    • Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia
    • Miname MH, Ribeiro MS 2nd, Parga Filho, et al. Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia. Atherosclerosis 201 0; 213:486-491.
    • (2010) Atherosclerosis , vol.213 , pp. 486-491
    • Miname, M.H.1    Ribeiro Iind, M.S.2    Filho, P.3
  • 24
    • 0025597137 scopus 로고
    • The LDL receptor locus in familial hyperchole sterolemia: Mutational analysis of a membrane protein
    • Hobbs HH, Russell DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hyperchole sterolemia: Mutational analysis of a membrane protein. Annu Rev Genet 1990; 24:133-170.
    • (1990) Annu Rev Genet , vol.24 , pp. 133-170
    • Hobbs, H.H.1    Russell, D.W.2    Brown, M.S.3    Goldstein, J.L.4
  • 25
    • 84875055351 scopus 로고    scopus 로고
    • The effect of LDLR-negative genotype on CT coronary atheroscle rosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia
    • Ten Kate GJ, Neefjes LA, Dedic A, et al. The effect of LDLR-negative genotype on CT coronary atheroscle rosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia. Atherosclerosis 2013; 227: 334-341.
    • (2013) Atherosclerosis , vol.227 , pp. 334-341
    • Ten Kate, G.J.1    Neefjes, L.A.2    Dedic, A.3
  • 26
    • 77949485460 scopus 로고    scopus 로고
    • Mipomersen, an apolipop rotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, double-blind, placebo-controlled trial
    • Raal FJ, Santos RD, Blom DJ, et al. Mipomersen, an apolipop rotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: A randomised, double-blind, placebo-controlled trial. Lancet 2010; 375:998-1006.
    • (2010) Lancet , vol.375 , pp. 998-1006
    • Raal, F.J.1    Santos, R.D.2    Blom, D.J.3
  • 27
    • 84868518061 scopus 로고    scopus 로고
    • Apolipoprotein B synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia: Results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safety as add-on therapy in patients with coronary artery disease
    • Stein EA, Dufour R, Gagne C, et al. Apolipoprotein B synthesis inhibition with mipomersen in heterozygous familial hypercholesterolemia: Results of a randomized, double-blind, placebo-controlled trial to assess efficacy and safe ty as add-on therapy in patients with coronary artery disease. Circulation 2012; 126:2283-2292.
    • (2012) Circulation , vol.126 , pp. 2283-2292
    • Stein, E.A.1    Dufour, R.2    Gagne, C.3
  • 29
    • 84871945617 scopus 로고    scopus 로고
    • Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in pati ents with homozygous familial hypercholesterolaemia: A single-arm, open-label, phase 3 study
    • Cuchel M, Meagher EA, du Toit Theron H, et al. Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in pati ents 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    Toit, D.3    Theron, H.4
  • 30
    • 84863494422 scopus 로고    scopus 로고
    • Effect of a monoclonal antibody to PCSK9 , REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: A phase 2 randomised controlled trial
    • Stein EA, Gipe D, Bergeron J, et al. Effect of a monoclonal antibody to PCSK9 , REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: A phase 2 randomised controlled trial. Lancet 2012; 380 :29-36.
    • (2012) Lancet , vol.380 , pp. 29-36
    • Stein, E.A.1    Gipe, D.2    Bergeron, J.3
  • 31
    • 84869220345 scopus 로고    scopus 로고
    • Low-density lipoprotein cholesterollowering effects ofAMG145, 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 cholesterollowering effects ofAMG145, 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; 126:2408-2417.
    • (2012) Circulation , vol.126 , pp. 2408-2417
    • Raal, F.1    Scott, R.2    Somaratne, R.3
  • 32
    • 84888294490 scopus 로고    scopus 로고
    • Low-density lipoprotein cholesterol reduction by inhibition of PCSK9
    • . Stein EA. Low-density lipoprotein cholesterol reduction by inhibition of PCSK9. Curr Opin Lipidol 2013; 24:510-517.
    • (2013) Curr Opin Lipidol , vol.24 , pp. 510-517
    • Stein, E.A.1
  • 33
    • 84892679366 scopus 로고    scopus 로고
    • Efficacy and safety of longer-term administration of evolocumab (AMG 145) in patients with hypercholesterolemia: 52week results from the Open-Label Study of Long-Term Evaluation Against LDL-C (OSLER) randomized trial
    • Koren MJ,Giugliano RP,Raal FJ,et al. Efficacy and safety of longer-term administration of evolocumab (AMG 145) in patients with hypercholesterolemia: 52week results from the Open-Label Study of Long-Term Evaluation Against LDL-C (OSLER) randomized trial. Circulation, 2014, 129, 234-243.
    • (2014) Circulation , vol.129 , pp. 234-243
    • Koren, M.J.1    Giugliano, R.P.2    Raal, F.J.3
  • 34
    • 84887164358 scopus 로고    scopus 로고
    • Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia
    • Stein EA, Honarpour N, Wasserman SM, et al. Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia. Circulation 2013; 128:21 13-2120.
    • (2013) Circulation , vol.128 , pp. 2113-2120
    • Stein, E.A.1    Honarpour, N.2    Wasserman, S.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.