메뉴 건너뛰기




Volumn 25, Issue 3, 2014, Pages 176-182

Familial combined hyperlipidemia: From molecular insights to tailored therapy

Author keywords

Cause; comorbidities; familial combined hyperlipidemia; genetics; treatment

Indexed keywords

ANTILIPEMIC AGENT; EZETIMIBE PLUS SIMVASTATIN; FIBRIC ACID DERIVATIVE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; MIPOMERSEN; PHOSPHOLIPID TRANSFER PROTEIN; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9 INHIBITOR; SERINE PROTEINASE; SIMVASTATIN; UNCLASSIFIED DRUG; UPSTREAM STIMULATORY FACTOR 1; CARRIER PROTEIN; PCSK9 PROTEIN, HUMAN; SLC25A40 PROTEIN, HUMAN;

EID: 84900510344     PISSN: 09579672     EISSN: 14736535     Source Type: Journal    
DOI: 10.1097/MOL.0000000000000068     Document Type: Review
Times cited : (26)

References (39)
  • 1
    • 0015796295 scopus 로고
    • Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
    • Goldstein JL, Schrott HG, Hazzard WR, et al. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorde r, combined hyperlipidemia. J Clin Invest 1973; 52:1544-1568.
    • (1973) J Clin Invest , vol.52 , pp. 1544-1568
    • Goldstein, J.L.1    Schrott, H.G.2    Hazzard, W.R.3
  • 2
    • 0042074140 scopus 로고    scopus 로고
    • Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyc eridemia: A case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study
    • Hopkins PN, Heiss G, Ellison RC, et al. Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyc eridemia: A case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. Circulation 2003; 108:519-523.
    • (2003) Circulation , vol.108 , pp. 519-523
    • Hopkins, P.N.1    Heiss, G.2    Ellison, R.C.3
  • 3
    • 3042558196 scopus 로고    scopus 로고
    • Nomogram to diagnose familial combined hyperlipidemia on the basis of results of a 5-year follow-up study
    • Veerkamp MJ, de Graaf J, Hendriks JC, et al. Nomogram to diagnose familial combined hyperlipidemia on the basis of results of a 5-year follow-up study. Circulation 2004; 109:2980-2985.
    • (2004) Circulation , vol.109 , pp. 2980-2985
    • Veerkamp, M.J.1    De Graaf, J.2    Hendriks, J.C.3
  • 4
    • 0037003046 scopus 로고    scopus 로고
    • A proposal to redefine familial combined hyperlipidaemia: Third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sessions of the European Society for Clinical Investigation
    • Sniderman AD, Castro Cabezas M, Ribalta J, et al. A proposal to redefine familial combined hyperlipidaemia: Third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sessions of the European Society for Clinical Investigation. Eur J Clin Invest 2002; 32:71-7 3.
    • (2002) Eur J Clin Invest , vol.32 , pp. 71-73
    • Sniderman, A.D.1    Castro Cabezas, M.2    Ribalta, J.3
  • 5
    • 84900505538 scopus 로고    scopus 로고
    • The polygenic nature of hypertriglyceridaemia: Implications for definition, diagnosis, and management
    • Hegele RA, Ginsberg HN, Chapman MJ, et al. The polygenic nature of hypertriglyceridaemia: Implications for definition, diagnosis, and management. Lancet Diabetes Endocrinol 2013.
    • (2013) Lancet Diabetes Endocrinol
    • Hegele, R.A.1    Ginsberg, H.N.2    Chapman, M.J.3
  • 6
    • 84861329705 scopus 로고    scopus 로고
    • The genetics of familial combined hyperlipidaemia
    • Comprehensive report on the genetics of FCHL
    • B rouwers MC, van Greevenbroek MM, Stehouwer CD, et al. The genetics of familial combined hyperlipidaemia. Nat Rev Endocrinol 2012; 8:352-362. Comprehensive report on the genetics of FCHL.
    • (2012) Nat Rev Endocrinol , vol.8 , pp. 352-362
    • Brouwers, M.C.1    Van Greevenbroek, M.M.2    Stehouwer, C.D.3
  • 7
    • 18944387193 scopus 로고    scopus 로고
    • Abdominal obesity and expression of familial combined hyperlipidemia
    • van der Kallen CJ, Voors-Pette C, de Bruin TW. Abdominal obesity and expression of familial combined hyperlipidemia. Obes Res 2004; 12:2054-2061.
    • (2004) Obes Res , vol.12 , pp. 2054-2061
    • Van Der Kallen, C.J.1    Voors-Pette, C.2    De Bruin, T.W.3
  • 8
    • 84861531575 scopus 로고    scopus 로고
    • Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders
    • Auer S,Hahne P,Soyal SM,et al, Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders. Arterioscler Thromb Vasc Biol, 2012, 32, 1535-1544.
    • (2012) Arterioscler Thromb Vasc Biol , vol.32 , pp. 1535-1544
    • Auer, S.1    Hahne, P.2    Soyal, S.M.3
  • 9
    • 84890308141 scopus 로고    scopus 로고
    • Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia
    • Rosenthal EA, Ranchalis J, Crosslin DR, et al. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet 2013; 93:1035-1045.
    • (2013) Am J Hum Genet , vol.93 , pp. 1035-1045
    • Rosenthal, E.A.1    Ranchalis, J.2    Crosslin, D.R.3
  • 10
    • 80053202844 scopus 로고    scopus 로고
    • Linkage and association of phospholipid transfer protein activity to LASS4
    • Rosenthal EA, Ronald J, Rothstein J, et al. Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res 2011; 52: 1837 -1846.
    • (2011) J Lipid Res , vol.52 , pp. 1837-1846
    • Rosenthal, E.A.1    Ronald, J.2    Rothstein, J.3
  • 11
    • 80052328701 scopus 로고    scopus 로고
    • Plasma proprotein convertase subtilisin kexin type 9 is a heritable trait of familial combined hyperlipidaemia
    • Brouwers MC, van Greevenbroek MM, Troutt JS, et al. Plasma proprotein convertase subtilisin kexin type 9 is a heritable trait of familial combined hyperlipidaemia. Clin Sci (Lond) 2011; 121:397-403.
    • (2011) Clin Sci (Lond) , vol.121 , pp. 397-403
    • Brouwers, M.C.1    Van Greevenbroek, M.M.2    Troutt, J.S.3
  • 12
    • 84887618014 scopus 로고    scopus 로고
    • electronic response to Chernogubova et al. Common and lowfrequency genetic var i ants in the PCSK9 locus influencing circulating PCSK9 levels Atvb.ahajournals.org Accessed 30 January 2014
    • Brou wers MC, Isaacs A, Konrad RJ et al. No linkage for circulating proprotein convertase subtilisin kexin type 9 in 32 familial combined hyperlipidemia pedigrees. [electronic response to Chernogubova et al. Common and lowfrequency genetic var i ants in the PCSK9 locus influencing circulating PCSK9 levels]. Atvb.ahajournals.org 2012. http://atvb.ahajournals.org/cgi/ eletters/ATVBAHA.111.240549 2012 [Accessed 30 January 2014].
    • (2012) No Linkage for Circulating Proprotein Convertase Subtilisin Kexin Type 9 in 32 Familial Combined Hyperlipidemia Pedigrees
    • Brouwers, M.C.1    Isaacs, A.2    Konrad, R.J.3
  • 13
    • 84861528559 scopus 로고    scopus 로고
    • Common and lowfrequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels
    • Chernogubova E, Stra wbridge R, Mahdessian H, et al. Common and lowfrequency genetic variants in the PCSK9 locus influence circulating PCSK9 levels. Arterioscler Thromb Vasc Biol 2012; 32:1526-1534.
    • (2012) Arterioscler Thromb Vasc Biol , vol.32 , pp. 1526-1534
    • Chernogubova, E.1    Stra Wbridge, R.2    Mahdessian, H.3
  • 14
    • 84898810936 scopus 로고    scopus 로고
    • Bile acid synthesis precursors in familial combined hyperlipidemia: The oxysterols 24S-hydroxycholesterol and 27-hydroxycholesterol
    • Online Jan 6 2014 DOI: 10. 1016/j.bbrc.2013.12.131
    • Baila-Rueda L, Mateo-Gallego R, Jarauta E, et al. Bile acid synthesis precursors in familial combined hyperlipidemia: The oxysterols 24S-hydroxycholesterol and 27-hydroxycholesterol. Biochem Biophys Res Commun 2014; Online Jan 6 2014 DOI: 10. 1016/j.bbrc.2013.12.131.
    • (2014) Biochem Biophys Res Commun
    • Baila-Rueda, L.1    Mateo-Gallego, R.2    Jarauta, E.3
  • 15
    • 84861577212 scopus 로고    scopus 로고
    • Cholesterol metabolism differs after statin therapy according to the type of hyperlipemia
    • Lupattelli G, Siepi D, De Vuono S, et al. Cholesterol metabolism differs after statin therapy according to the type of hyperlipemia. Life Sci 2012; 90:846-850.
    • (2012) Life Sci , vol.90 , pp. 846-850
    • Lupattelli, G.1    Siepi, D.2    De Vuono, S.3
  • 16
    • 73849137508 scopus 로고    scopus 로고
    • Familial combined hyperlipidemia is associated with alterations in the cholesterol synthesis pathway
    • van Himbergen TM, Otokozawa S, Matthan NR, et al. Familial combined hyperlipidemia is associated with alterations in the cholesterol synthesis pathway. Arterioscler Thromb Vasc Biol 2010; 30:113-1 20.
    • (2010) Arterioscler Thromb Vasc Biol , vol.30 , pp. 113-120
    • Van Himbergen, T.M.1    Otokozawa, S.2    Matthan, N.R.3
  • 17
    • 84887606397 scopus 로고    scopus 로고
    • Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia
    • Brouwers MC, Konrad RJ, van Himbergen TM, et al. Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia. Nutr Meta b Cardiovasc Dis 2013; 23:1115-1121.
    • (2013) Nutr Meta B Cardiovasc Dis , vol.23 , pp. 1115-1121
    • Brouwers, M.C.1    Konrad, R.J.2    Van Himbergen, T.M.3
  • 18
    • 80053927990 scopus 로고    scopus 로고
    • Dynamics of human adipose lipid turnover in health and metabolic disease
    • Arner P, Bernard S, Salehpour M, et al. Dynamics of human adipose lipid turnover in health and metabolic disease. Nature 2011; 478:110-113.
    • (2011) Nature , vol.478 , pp. 110-113
    • Arner, P.1    Bernard, S.2    Salehpour, M.3
  • 19
    • 84865400140 scopus 로고    scopus 로고
    • Targeted profiling of atherogenic phospholipids in human plasma and lipoproteins of hyperlipidemic patients using MALDI-QIT-TOF-MS/MS
    • Stubiger G, Aldover-Macasaet E, Bicker W, et al. Targeted profiling of atherogenic phospholipids in human plasma and lipoproteins of hyperlipidemic patients using MALDI-QIT-TOF-MS/MS. Atherosclerosis 2012; 224:177-186.
    • (2012) Atherosclerosis , vol.224 , pp. 177-186
    • Stubiger, G.1    Aldover-Macasaet, E.2    Bicker, W.3
  • 20
    • 84862122983 scopus 로고    scopus 로고
    • Carotid atherosclerosis and lipoprotein particle subclasses in familial hypercholesterolaemia and familial combined hyperlipidaemia
    • Jarauta E, Mateo-Gallego R, Gilabert R, et al. Carotid atherosclerosis and lipoprotein particle subclasses in familial hypercholesterolaemia and familial combined hyperlipidaemia. Nutr Metab Cardiovasc Dis 2012; 22:591-597.
    • (2012) Nutr Metab Cardiovasc Dis , vol.22 , pp. 591-597
    • Jarauta, E.1    Mateo-Gallego, R.2    Gilabert, R.3
  • 21
    • 84870754011 scopus 로고    scopus 로고
    • Up-regulation of the complement system in subcutaneous adipocytes from nonobese, hypertri glyceridemic subjects is associated with adipocyte insulin resistance
    • van Greevenbroek MM, Ghosh S, van der Kallen CJ, et al. Up-regulation of the complement system in subcutaneous adipocytes from nonobese, hypertri glyceridemic subjects is associated with adipocyte insulin resistance. J Clin Endocrinol Metab 2012; 97:4742-4752.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 4742-4752
    • Van Greevenbroek, M.M.1    Ghosh, S.2    Van Der Kallen, C.J.3
  • 22
    • 84887961286 scopus 로고    scopus 로고
    • CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients
    • Horswell SD, Fryer LG, Hutchison CE, et al. CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients. J Lipid Res 2013; 54: 3491-3505.
    • (2013) J Lipid Res , vol.54 , pp. 3491-3505
    • Horswell, S.D.1    Fryer, L.G.2    Hutchison, C.E.3
  • 23
    • 0034691299 scopus 로고    scopus 로고
    • Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study
    • Austin MA, McKnight B, Edwards KL, et al. Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation 2000; 101:2777-2782.
    • (2000) Circulation , vol.101 , pp. 2777-2782
    • Austin, M.A.1    McKnight, B.2    Edwards, K.L.3
  • 24
    • 77951950385 scopus 로고    scopus 로고
    • Five-year incidence of type 2 diabetes mellitus in patients with familial combined hyperlipidaemia
    • Brouwers MC, van d er Kallen CJ, Schaper NC, et al. Five-year incidence of type 2 diabetes mellitus in patients with familial combined hyperlipidaemia. Neth J Med 2010; 68:163-167.
    • (2010) Neth J Med , vol.68 , pp. 163-167
    • Brouwers, M.C.1    Van Der Kallen, C.J.2    Schaper, N.C.3
  • 25
    • 50949102416 scopus 로고    scopus 로고
    • Rationale and design of IMPROVEIT (IMProved Reduction of Outcomes: Vytorin Efficacy International Trial): Comparison of ezetimbe/simvastatin versus simvastatin monotherapy on cardiovascular outcomes in patients with acute coronary syndromes
    • CannonCP, GiuglianoRP, BlazingMA, et al.Rationale and design of IMPROVEIT (IMProved Reduction of Outcomes: Vytorin Efficacy International Trial): Comparison of ezetimbe/simvastatin versus simvastatin monotherapy on cardiovascular outcomes in patients with acute coronary syndromes. Am Heart J 2008; 156:826-832.
    • (2008) Am Heart J , vol.156 , pp. 826-832
    • Cannon, C.P.1    Giugliano, R.P.2    Blazing, M.A.3
  • 26
    • 79960539641 scopus 로고    scopus 로고
    • ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the Eur opean Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS)
    • Reiner Z, Catapano AL, De Backer G, et al. ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the Eur opean Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Eur Heart J 2011; 32:1769-1818.
    • (2011) Eur Heart J , vol.32 , pp. 1769-1818
    • Reiner, Z.1    Catapano, A.L.2    De Backer, G.3
  • 27
    • 77951704587 scopus 로고    scopus 로고
    • Effects of combination lipid therapy in type 2 diabetes mellitus
    • Ginsberg HN, Elam MB, Lovato LC, et al. Effects of combination lipid therapy in type 2 diabetes mellitus. N Engl J Med 2010; 362:1563-1574.
    • (2010) N Engl J Med , vol.362 , pp. 1563-1574
    • Ginsberg, H.N.1    Elam, M.B.2    Lovato, L.C.3
  • 28
    • 84855171302 scopus 로고    scopus 로고
    • Niacin in patients with low HDL cholesterol levels receiving intensive statin therapy
    • Boden WE, Probstfield JL, Anderson T, et al. Niacin in patients with low HDL cholesterol levels receiving intensive statin therapy. N Engl J Med 2011; 365:2255-2267.
    • (2011) N Engl J Med , vol.365 , pp. 2255-2267
    • Boden, W.E.1    Probstfield, J.L.2    Anderson, T.3
  • 29
    • 84877299845 scopus 로고    scopus 로고
    • HPS2-THRIVE randomized placebo-controlled trial in 25 673 high-risk patients of ER niacin/laropiprant: Trial design, prespecified muscle and liver outcomes, and reaso ns for stopping study treatment
    • HPS2-THRIVE randomized placebo-controlled trial in 25 673 high-risk patients of ER niacin/laropiprant: Trial design, prespecified muscle and liver outcomes, and reaso ns for stopping study treatment. Eur Heart J, 2013, 34, 1279-1291.
    • (2013) Eur Heart J , vol.34 , pp. 1279-1291
  • 30
    • 78650307216 scopus 로고    scopus 로고
    • Novel drugs in familial combined hyperlipidemia: Lessons from type 2 diabetes mellitus
    • Brouwers MC, de Graaf J, van GreevenbroekMM, et al. Novel drugs in familial combined hyperlipidemia: Lessons from type 2 diabetes mellitus. Curr Opin Lipidol 2010; 21:530-538.
    • (2010) Curr Opin Lipidol , vol.21 , pp. 530-538
    • Brouwers, M.C.1    De Graaf, J.2    Van Greevenbroek, M.M.3
  • 31
    • 84859072579 scopus 로고    scopus 로고
    • Niacin in cardiovascular patients receiving statins
    • author reply 1255-1256
    • Brouwers MC, Stehouwer CD. Niacin in cardiovascular patients receiving statins. N Engl J Med 2012; 366:1255; author reply 1255-1256.
    • (2012) N Engl J Med , vol.366 , pp. 1255
    • Brouwers, M.C.1    Stehouwer, C.D.2
  • 32
    • 77549087054 scopus 로고    scopus 로고
    • Statins and risk of incident diabetes: A collaborative meta-analysis of randomised statin trials
    • Sattar N, Preiss D, Murray HM, et al. Statins and risk of incident diabetes: A collaborative meta-analysis of randomised statin trials. Lancet 2010; 375:735-742.
    • (2010) Lancet , vol.375 , pp. 735-742
    • Sattar, N.1    Preiss, D.2    Murray, H.M.3
  • 33
    • 84864861863 scopus 로고    scopus 로고
    • Cardiovascular benefits and diabetes risks of statin therapy in primary prevention: An analysis from the JUPITER trial
    • Ridker PM, Pradhan A, MacFadyen JG, et al. Cardiovascular benefits and diabetes risks of statin therapy in primary prevention: An analysis from the JUPITER trial. Lancet 2012; 380:565-571.
    • (2012) Lancet , vol.380 , pp. 565-571
    • Ridker, P.M.1    Pradhan, A.2    Macfadyen, J.G.3
  • 34
    • 34548631472 scopus 로고    scopus 로고
    • Fatty liver: Based identification of two distinct hypertriglyceridemic subgroups in familial combined hyperlipidemia
    • Brouwers MC, van Greevenbroek MM, Bilderbeek-Beckers MA, et al. Fatty liver: Based identification of two distinct hypertriglyceridemic subgroups in familial combined hyperlipidemia. Metabolism 2007; 56:1311-1317. 35. Kissebah AH, Alfarsi S, Adams PW. Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: Normolipemic subjects, familial hypertriglyceridemia and familial combined hyper lipidemia. Metabolism 1981; 30:856-868.
    • (2007) Metabolism , vol.56 , pp. 1311-1317
    • Brouwers, M.C.1    Van Greevenbroek, M.M.2    Bilderbeek-Beckers, M.A.3
  • 35
    • 0019506499 scopus 로고
    • Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: Normolipemic subjects, familial hypertriglyceridemia and familial combined hyper lipidemia
    • Kissebah AH, Alfarsi S, Adams PW. Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: Normolipemic subjects, familial hypertriglyceridemia and familial combined hyper lipidemia. Metabolism 1981; 30:856-868
    • (1981) Metabolism , vol.30 , pp. 856-868
    • Kissebah, A.H.1    Alfarsi, S.2    Adams, P.W.3
  • 36
    • 77951072532 scopus 로고    scopus 로고
    • Effect of apolipoprotein-B synthesis inhibition on liver triglyceride content in patients with familial hypercholesterolemia
    • Visser ME, Akdim F, Tribble DL, et al. Effect of apolipoprotein-B synthesis inhibition on liver triglyceride content in patients with familial hypercholesterolemia. J Lipid Res 2010; 51:1057-1062.
    • (2010) J Lipid Res , vol.51 , pp. 1057-1062
    • Visser, M.E.1    Akdim, F.2    Tribble, D.L.3
  • 37
    • 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 safety 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
  • 38
    • 84868689211 scopus 로고    scopus 로고
    • Atorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemia
    • Phase II interventional study showing that PCSK9-lowering therapy has a substantial effect on LDL cholesterol levels, even on top of statin therapy
    • Roth EM, McKenney JM, Hanotin C, et al. Atorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemia. N Engl J Med 2012; 367:1891 - 1900. Phase II interventional study showing that PCSK9-lowering therapy has a substantial effect on LDL cholesterol levels, even on top of statin therapy.
    • (2012) N Engl J Med , vol.367 , pp. 1891-1900
    • Roth, E.M.1    McKenney, J.M.2    Hanotin, C.3
  • 39
    • 34248366942 scopus 로고    scopus 로고
    • Unravelling the functional significance of PCSK9
    • Lambert G. Unravelling the functional significance of PCSK9. Curr Opin Lipidol 2007; 18:304-309.
    • (2007) Curr Opin Lipidol , vol.18 , pp. 304-309
    • Lambert, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.