参考文献/References:
[1]. 温文慧,匡泽民,吴月,等. 纯合型家族性高胆固醇血症诊疗进展[J]. 协和医学杂志,2019,10(4):387-392.
[2].[2]Akioyamen LE,Genest J,Shan SD,et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia:a systematic review and meta-analysis[J].?BMJ Open,2017,7(9): e016461.
[3].[3] Kramer AI,Trinder M,Brunham LR. Estimating the prevalence of familial hypercholesterolemia in acute coronary syndrome:a systematic review and meta-analysis [J].?Can J Cardiol,2019,35(10):1322-1331.
[4].[4] Shi HW,Yang JG,Wang Y,et al. The prevalence of familial hypercholesterolemia(FH) in Chinese patients with acute myocardial infarction(AMI):data from Chinese Acute Myocardial Infarction (CAMI) registry[J]. Front Cardiovasc Med,2020,7:113.
[5].[5] 宋永健,杜鑫,郑梦伊等. 低密度脂蛋白胆固醇累积暴露对新发急性心肌梗死影响的前瞻性队列研究[J]. 中国循环杂志,2020,35(3):246-253.
[6].[] Hovingh GK,Kastelein JJ. Diagnosis and management of individuals with heterozygous familial hypercholesterolemia:too late and too little[J]. Circulation,2016,134(10):710-712.
[7].[7] Auckle R,Su B,Li H,et al. Familial hypercholesterolemia in Chinese patients with premature ST-segment-elevation myocardial infarction:prevalence,lipid management and 1-year follow-up[J]. PLoS One,2017,12(10):e0186815.
[8].[8] Jetty V,Glueck CJ,Lee K,et al. Eligibility for alirocumab or evolocumab treatment in 1 090 hypercholesterolemic patients referred to a regional cholesterol treatment center with LDL cholesterol≥70 mg/dL despite maximal-tolerated LDL-cholesterol-lowering therapy[J]. Vasc Health Risk Manag,2017,13:247-253.
[9].[9] 中华医学会心血管病学分会动脉粥样硬化及冠心病学组. 家族性高胆固醇血症筛查与 诊治中国专家共识[J]. 中华心血管病杂志,2018,46(2)99-103.
[10].[10] Pang J,Chan DC,Watts GF. The knowns and unknowns of contemporary statin therapy for familial hypercholesterolemia[J].?Curr Atheroscler Rep,2020,22(11):64.
[11].[11] Radaelli G,Sausen G,Cesa CC,et al. Statin treatments and dosages in children with familial hypercholesterolemia:meta-analysis[J]. Arq Bras Cardiol,2018,111(6):810-821.
[12].[12] Luirink IK,Wiegman A,Kusters DM,et al. 20-year follow-up of statins in children with?familial?hypercholesterolemia[J]. N Engl J Med,2019,381(16):1547-1556.
[13].[13] Shala-Haskaj P,Kr?henmann F,Schmidt D. CME/answers:familial hypercholesterolemia—Statin treatment during pregnancy and breastfeeding[J].?Praxis(Bern 1994),2020,109(6):405-410.
[14].[14] Kayikcioglu M,Tokgozoglu L,Tuncel OK,et al. Negative impact of COVID-19 pandemic on the lifestyle and management of patients with homozygous familial hypercholesterolemia[J]. J Clin Lipidol,2020,14(6):751-755.
[15].[15] Scicali R,di Pino A,Piro S,et al. May statins and PCSK9 inhibitors be protective from COVID-19 in familial hypercholesterolemia subjects?[J]. Nutr Metab Cardiovasc Dis,2020,30(7):1068-1069.
[16].[16] Frías Vargas M,Díaz Rodríguez A,Díaz Fernández B. Lipid treatment in the period COVID-19[J]. Semergen,2020,46(7):497-502.
[17].[17] Kastelein JJ,Akdim F,Stroes ES,et al. Simvastatin with or without ezetimibe in familial hypercholesterolemia[J]. N Engl J Med,2008,358(14):1431-1443.
[18].[18] Jannasz I,Sondej T,Targowski T,et al. Pulse wave velocity—a useful tool in assessing the stiffness of the arteries[J]. Pol Merkur Lekarski,2019,46(276):257-262.
[19].[19] Mandraffino G,Scicali R,Rodríguez-Carrio J,et al. Arterial stiffness improvement after adding on PCSK9 inhibitors or ezetimibe to high-intensity statins in patients with familial hypercholesterolemia:a two-lipid center real-world experience[J].?J Clin Lipidol,2020,14(2):231-240.
[20].[20] Cuchel M,Meagher EA,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[J]. Lancet,2013,381(9860):40-46.
[21].[21] Khoury E,Brisson D,Roy N,et al. Review of the long-term safety of lomitapide:a microsomal triglycerides transfer protein inhibitor for treating homozygous familial hypercholesterolemia [J]. Expert Opin Drug Saf,2019,18(5):403-414.
[22].[22] Giammanco A,Cefalù AB,Noto D,et al. Therapeutic options for homozygous familial hypercholesterolemia:the role of lomitapide[J]. Curr Med Chem,2020,27(23):3773-3783.
[23].[23] Nohara A,Otsubo Y,Yanagi K,et al. Safety and efficacy of lomitapide in Japanese patients with homozygous familial hypercholesterolemia(HoFH):results from the AEGR-733-301 long-term extension study[J]. J Atheroscler Thromb,2019,26(4):368-377.
[24].[24] Kolovou G,Diakoumakou O,Kolovou V,et al. Microsomal triglyceride transfer protein inhibitor(lomitapide) efficacy in the treatment of patients with homozygous familial hypercholesterolaemia[J]. Eur J Prev Cardiol,2020,27(2):157-165.
[25].[25] Brown MS,Goldstein JL. Receptor-mediated endocytosis:insights from the lipoprotein receptor system[J]. Proc Nail Acad Sci U S A,1979,76(7):3330-3337.
[26].[26] Brown MS,Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis[J]. Science,1986,232(4746):34-47.
[27].[27] Cameron J,Holla ?L,Ranheim T,et a1. Effect of mutations in the PCSK9 gene on the cell surface LDL receptors[J]. Hum Mol Genet,2006,15(9):1551-1558.
[28].[28] Abifadel MI,Rabès JP,Devillers M,et al. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9(PCSK9) gene in cholesterol metabolism and disease[J]. Hum Mutat,2009,30(4):520-529.
[29].[29] 马颖艳,韩雅玲. 降脂治疗的新选择:PCSK9抑制剂[J]. 中华心血管病杂志,2019,47(2):164-167.
[30].[] Grundy SM,Stone NJ,Bailey AL,et al. 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines[J]. Circulation,2019,139(25):e1082-e1143.
[31].[31] Qian LJ,Gao Y,Zhang YM,et al. Therapeutic efficacy and safety of PCSK9-monoclonal antibodies on familial hypercholesterolemia and statin-intolerant patients:a meta-analysis of 15 randomized controlled trials[J].?Sci Rep,2017,7(1):238.
[32].[32] Santos RD,Stein EA,Hovingh GK,et al. Long-term evolocumab in patients with familial?hypercholesterolemia[J]. J Am Coll Cardiol,2020,75(6):565-574.
[33].[33] Blom DJ,Breedt J,Burgess LJ,et al. Long-term safety and efficacy of alirocumab in South African patients with heterozygous familial hypercholesterolaemia:the ODYSSEY Open-Label Extension study[J].?Cardiovasc J Afr,2019,30(5):279-284.
[34].[34] Ginsberg HN,Tuomilehto J,Hovingh GK,et al. Impact of age on the efficacy and safety of alirocumab in patients with heterozygous familial hypercholesterolemia[J].?Cardiovasc Drugs Ther,2019,33(1):69-76.
[35].[35] Jukema JW,Szarek M,Zijlstra LE,et al. Alirocumab in patients with polyvascular disease and recent acute coronary?syndrome:ODYSSEY OUTCOMES trial[J]. J Am Coll Cardiol,2019,74(9):1167-1176.
[36].[36] Santos RD,Ruzza A,Hovingh GK,et al. Evolocumab in pediatric heterozygous familial hypercholesterolemia[J]. N Engl J Med,2020,383(14):1317-1327.
[37].[37] Daniels S,Caprio S,Chaudhari U,et al. PCSK9 inhibition with alirocumab in pediatric patients with heterozygous familial hypercholesterolemia:the ODYSSEY KIDS study[J].?J Clin Lipidol,2020,14(3):322-330.
[38].[38] Wu MF,Xu KZ,Guo YG,et al. Lipoprotein(a) and atherosclerotic cardiovascular disease:current understanding and future perspectives[J]. Cardiovasc Drugs Ther,2019,33(6):739-748.
[39].[39] Pavanello C,Pirazzi C,Bjorkman K,et al. Individuals with familial hypercholesterolemia and cardiovascular events have higher circulating Lp(a) levels[J]. J Clin Lipidol,2019,13(5):778-787.
[40].[40] 孙荻,曹晔萱,李莎,等. 纳入血浆脂蛋白(a)的家族性高胆固醇血症改良诊断模型的探索性研究[J]. 中国循环杂志,2020,35(2):130-136.
[41].[] Torres E,Goicoechea M,Hernández A,et al. Efficacy of Evolocumab vs low-density lipoprotein cholesterol apheresis in patients with familial hypercholesterolemia and high cardiovascular risk(EVOLAFER01)[J].?J Clin Apher,2020,35(1):9-17.
[42].[42] di Minno MND,Gentile M,di Minno A,et al. Changes in carotid stiffness in patients with familial hypercholesterolemia treated with Evolocumab?:a prospective cohort study[J].?Nutr Metab Cardiovasc Dis,2020,30(6):996-1004.
[43].[43] Mahmood T,Minnier J,Ito MK,et al. Discordant responses of plasma low-density lipoprotein cholesterol and lipoprotein(a) to alirocumab:a pooled analysis from 10 ODYSSEY phase 3 studies[J]. Eur J Prev Cardiol,2020,Apr 10:2047487320915803.?DOI: 10.1177/2047487320915803.?Online ahead of print.
[44].[44] Raal FJ,Kallend D,Ray KK,et al. Inclisiran for the treatment of heterozygous familial hypercholesterolemia[J].?N Engl J Med,2020,382(16):1520-1530.
[45].[45] Brandts J,Ray KK. Small interfering RNA to proprotein convertase subtilisin/kexin type 9: transforming LDL-cholesterol-lowering strategies[J]. Curr Opin Lipidol,2020,31(4):182-186.
[46].[46] Koishi R,Ando Y,Ono M,et al. ANGPTL3 regulates lipid metabolism in mice[J].?Nat Genet,2002,30(2):151-157.
[47].[47] Dewey FE,Gusarova V,Dunbar RL,et al. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease[J].?N Engl J Med,2017,377(3):211-221.
[48].[48] Banerjee P,Chan KC,Tarabocchia M,et al. Functional analysis of LDLR(low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity [J].?Arterioscler Thromb Vasc Biol,2019,39(11):2248-2260.
[49].[49] Raal FJ,Rosenson RS,Reeskamp LF,et al. Evinacumab for homozygous familial hypercholesterolemia[J].?N Engl J Med,2020,383(8):711-720.
[50].[50] 朱春霞,荆恒攀,周莉,等. 新型调脂药Bempedoic Acid的临床研究进展[J]. 中国处方药,2019,17(4):12-14.
[51].[51] Ray KK,Bays HE,Catapano AL,et al. Safety and efficacy of bempedoic acid to reduce LDL cholesterol[J].?N Engl J Med,2019,380(11):1022-1032.
[52].[52] Marrs JC,Anderson SL. Bempedoic acid for the treatment of dyslipidemia[J]. Drugs Context,2020,9:2020-6-5.
[53].[53] Gaudet D,Durst R,Lepor N,et al. Usefulness of gemcabene in homozygous familial hypercholesterolemia(from COBALT-1)[J].?Am J Cardiol,2019,124(12):1876-1880.