Pour citer cet article : Farnier M et al., Diagnostic et traitement <strong>des</strong> hypercholestérolémies familiales (HF) chez l’adulte : recommandations de la Nouvelle société française d’athérosclérose (NSFA), Presse Med (<strong>2013</strong>), http://dx.doi.org/10.1016/j.lpm.<strong>2013</strong>.01.053. M Farnier, E Bruckert, C Boileau, M Krempf conclusions and recommendations oft he National Lipid Association Statin Safety Assessment Task Force. Am J Cardiol 2006; 97:C89-94. [81] Ge L, Wang J, Qi W, Miao HH, Cao J, Qu XY et al. The cholesterol absorption inhibitor ezetimibe acts by blocking the sterol-induced internalization of NPC1L1. Cell Metab 2008;7:508-19. [82] Pandor A, Ara RM, Tumur I, Wilkinson AJ, Paisley S, Duenas A et al. Ezetimibe monotherapy for cholesterol lowering in 2722 people: systematic review and meta-analysis of randomized controlled trials. J Intern Med 2009;265:568-80. [83] Birjmohun RS, Hutten BA, Kastelein JJ, Stroes ESG. Efficacy and safety of high-density lipoprotein cholesterol-increasing coumpounds. A meta-analysis of randomized controlled trials. J Am Coll Cardiol 2005; 45:185-97. [84] Huijgen R, Kindt I, Verhoeven SBJ, Sijbrands EJ, Vissers MN, Kastelein JJ et al. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterollowering treatment but a minority reaches treatment goal. Plos One 2010;5:e9220 ([on line]). [85] Pijlman AH, Huijgen R, Verhagen SN, Imholz BP, Liem AH, Kastelein JJ et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis 2010;209:189-94. [86] Stein E, Stender S, Mata P, Sager P, Ponsonnet D, Melani L et al. Achieving lipoprotein goals in patients at high risk with severe hypercholesterolemia: efficacy and safety of ezetimibe co-administered with atorvastatin. Am Heart J 2004;148:447-55. [87] Hamilton-Craig I, Kostner K, Colquhoun D, Woodhouse S. Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolemia. Vasc Health Risk Manag 2010;6:1023-37. [88] Huijgen R, Abbink EJ, Bruckert E, Stalenhoef AF, Imholz BP, Durrington BP et al. Colesevelam added to combination therapy with a statin and ezetimibe in patients with familial hypercholesterolemia: a 12-week, multicenter, randomised, double-blind, controlled trial. Clin Ther 2010;32:615-25. [89] Thompson GR, HEART-UK LDL Apheresis Working Group. Recommendations for the use of LDL apheresis. Atherosclerosis 2008;198: 247-55. [90] Thompson GR, Catapano A, Saheb S, Atassi- Dumont M, Barbir M, Eriksson M. Severe hypercholesterolaemia: therapeutic goals and eligibility criteria for LDL apheresis in Europe. Curr Opin Lipidol 2010;21:492-8. [91] Thompson GR, Barbir M, Davies D, Dobral P, Gesinde M, Livingstone M et al. Efficacy criteria and cholesterol targets for LDL apheresis. Atherosclerosis 2010;208:317-21. [92] Thompson GR. LDL apheresis. Atherosclerosis 2003;167:1-13. [93] Marais AD, Naoumova RP, Firth JC, Penny C, Neuwirth CK, Thompson GR. Decreased production of low-density lipoprotein by atorvastatin after apheresis in homozygous familial hypercholesterolemia. J Lipid Res 1997;38:2071-8. [94] Pfohl M, Naoumova RP, Klass C, Knisel W, Jakober B, Risler T. Acute and chronic effects on cholesterol biosynthesis of LDL-apheresis with or without concomitant HMG-Co. A reductase inhibitor therapy. J Lipid Res 1994;35:1946-55. [95] Thompsen J, Thompson PD. A systematic review of LDL apheresis in the treatment of cardiovascular disease. Atherosclerosis 2006;189:31-8. [96] Tatami R, Inove N, Itoh H, Kishino B, Koga N, Nakashima Y et al. Regression of coronary atherosclerosis by combined LDL-apheresis and lipid-lowering drug therapy in patients with familial hypercholesrolemia: a multicenter study. The LARS Investigators. Atherosclerosis 1992;95:1-13. [97] Waidner T, Franzen D, Voelker W, Ritter M, Borberg H, Hombach V et al. The effect of LDL apheresis on progression of coronary artery disease in patients with familial hypercholesterolemia. Results of a multicenter LDL apheresis study. Clin Investig 1994;72:858-63. [98] Schuff-Werner P, Gohike H, Bartmann U, Baggio G, Corti MC, Dinsenbacher A et al. The HELP-LDL-apheresis multicenter study, an angiographically assesses trial on the role of LDL-apheresis in the secondary prevention of coronary heart disease II. Final evaluation of the effect of regular treatment on LDL cholesterol plasma concentration and the course of coronary heart disease. Eur J Clin Invest 1994;24:724-32. [99] Thompson GR, Maher VM, Matthews, Kitano Y, Neuwirth C, Shortt MB et al. Familial hypercholesterolemia regression study: a randomised trial of low-density-lipoprotein apheresis. Lancet 1995;345:811-6. [100]Kroon AA, Aengevaeren WR, van den Werf T, Uijen GJ, Reiber JH, Bruschke AV et al. LDL- Apheresis Atherosclerosis Regression Study (LAARS). Effect of aggressive versus conventional lipid lowering treatment of coronary atherosclerosis. Circulation 1996;93: 1826-35. [101]Mabuchi H, Koizumi J, Shimizu M, Kajinami K, Miyamoto S, Ueda K et al. Long-term efficacy of low-density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia. Hokuriku-FH-LDL-Apheresis Study Group. Am J Cardiol 1998;82:1489-95. [102]Ritcher WO, Donner MG, Hofling B, Schwandt P. Long-term of low-density lipoprotein apheresis on plasma lipoproteins and coronary heart disease in native vessels and coronary bypass in severe heterozygous familial hypercholesterolemia. Metabolism 1998;47:863-8. [103]Tamai O, Matsuoka H, Itabe Y, Kohno K, Imaisumi T. Single LDL apheresis improves endothelium-dependent vasodilation in hypercholesterolemia humans. Circulation 1997;95:76-82. [104]Igarashi K, Tsuji M, Nishimura M, Horimoto M. Improvement of endothelium-dependent coronary vasodilation after a single LDL apheresis in patients with hypercholesterolemia. J Clin Apher 2004;19:11-6. [105]Sato M, Amano I. Changes in oxidative stress and microcirculation by low-density lipoprotein apheresis. Ther Apher Dial 2003;7:419- 24. [106]Kobayashi K, Yamashita K, Tasaki H, Suzuka H, Nihei S, Ozumi K et al. Evaluation of improtved coronary flow velocity reserve using transthoracic Doppler echocardiography after single LDL apheresis. Ther Apher Dial 2004;8:383-9. [107]Choh SA, Choh NA, Rasool A, Yousuf R, Qureshi U. Homozygous familial hypercholesterolemia. J Pediatr Endocrinol Metab 2009;22:573-5. [108]Morrisett JD, Vickers KC. Vascular calcification in homozygote familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2008;28:606-7. [109]Naoumova RP, Thompson GR, Soutar AK. Current management of severe homozygous hypercholesterolaemias. Curr Opin Lipidol 2004;15:413-22. [110]Goldammer A, Wiltschnig S, Heinz G, Jansen M, Stulnig T, Hört WH et al. Atorvastatin in low-density lipoprotein apheresis-treated patients with homozygous and heterozygous familial hypercholesterolemia. Metabolism 2002;51:976-80. [111]Raal FJ, Pilcher GJ, Panz VR, van Deventer HE, Brice BC, Blom DJ et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011;124:2202-7. [112]Gagné C, Gaudet D, Bruckert E, Ezetimibe Study Group. Efficacy and safety of ezetimibe co-administered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia. Circulation 2002;105:2469-75. [113]Hudgins LC, Kleinman B, Scheuer A, White S, Gordon BR. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol 2008;102:1199- 204. [114]Raal FJ, Santos RD, Blom DJ, Marais AD, Charng MJ, Cromwell WC et al. Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, p l a c e b o - c o n t r o l l e d t r i a l . L a n c e t 2010;375:998-1006. 20 tome // > n8/ > /
Pour citer cet article : Farnier M et al., Diagnostic et traitement <strong>des</strong> hypercholestérolémies familiales (HF) chez l’adulte : recommandations de la Nouvelle société française d’athérosclérose (NSFA), Presse Med (<strong>2013</strong>), http://dx.doi.org/10.1016/j.lpm.<strong>2013</strong>.01.053. Diagnostic et traitement <strong>des</strong> hypercholestérolémies familiales (HF) chez l’adulte [115]Rizzo M. Lomitapide, a microsomal triglyceride transfer protein inhibitor for the treatment of hypercholesterolemia. IDrugs 2010;13:103-11. [116]Thorogood M, Seed M, De Mott K. Management of fertility in women with familial hypercholesterolemia summary of a NICE guidance. BJOG 2009;116:478-9. [117]Loke DF, Viegas OA, Kek LP, Rauff M, Thai AC, Ratmam SS. Lipid profils during and after tome // > n8/ > / normal pregnancy. Gynecol Obstet Invest 1991;32:144-7. [118]Martin U, Davies C, Hayavi S, Hartland A, Dunne F. Is normal pregnancy atherogenic? Clin Sci (Lond) 1999;96:421-5. [119]Amundsen AL, Khoury J, Iversen PO, Bergei C, Ose L, Tonstad S. Marked changes in plasma lipids and lipoproteins during pregnancy in women with familial hypercholesterolemia. Atherosclerosis 2006;189:451-7. [120]Kusters DM, Homsma SJM, Hutten MTB, Twickler MT, Avis HJ, van der Post JA et al. Dilemmas in treatment of women with familial hypercholesterolemia during pregnancy. Neth J Med 2010;68:299-303. [121]Klingel R, Gohlen B, Schwarting A, Himmelsbach F, Straube R. Differential indication of lipoprotein apheresis during pregnancy. Ther Apher Dial 2003;7: 359-64. 21 Recommandations