家族性高胆固醇血症:指南和疗法

张禾, 干伟. 家族性高胆固醇血症:指南和疗法[J]. 临床心血管病杂志, 2021, 37(4): 293-298. doi: 10.13201/j.issn.1001-1439.2021.04.002
引用本文: 张禾, 干伟. 家族性高胆固醇血症:指南和疗法[J]. 临床心血管病杂志, 2021, 37(4): 293-298. doi: 10.13201/j.issn.1001-1439.2021.04.002
ZHANG He, GAN Wei. Familial hypercholesterolemia: guidelines and therapies[J]. J Clin Cardiol, 2021, 37(4): 293-298. doi: 10.13201/j.issn.1001-1439.2021.04.002
Citation: ZHANG He, GAN Wei. Familial hypercholesterolemia: guidelines and therapies[J]. J Clin Cardiol, 2021, 37(4): 293-298. doi: 10.13201/j.issn.1001-1439.2021.04.002

家族性高胆固醇血症:指南和疗法

  • 基金项目:

    四川省科技厅项目(No:2019YJ0061)

详细信息
    通讯作者: 干伟,E-mail:2004ganwei@163.com
  • 中图分类号: R589.2

Familial hypercholesterolemia: guidelines and therapies

More Information
  • 家族性高胆固醇血症(FH)是一种主要由编码低密度脂蛋白代谢相关蛋白的基因突变所引起的遗传性疾病,主要特征为低密度脂蛋白胆固醇升高以及早发性心血管疾病。FH的发病率较高,诊断率相对较低,早期诊断和药物干预对预防和延缓FH患者心血管事件的发生尤为重要。
  • 加载中
  • [1]

    Polychronopoulos G,Tziomalos K.Treatment of heterozygous familial hypercholesterolemia:what does the future hold?[J].Expert Rev Clin Pharmacol,2020,13(11):1229-1234.

    [2]

    Raal FJ,Rosenson RS,Reeskamp LF,et al.Evinacumab for Homozygous Familial Hypercholesterolemia[J].N Engl J Med,2020,383(8):711-720.

    [3]

    Di Taranto MD,Giacobbe C,Fortunato G.Familial hypercholesterolemia:A complex genetic disease with variable phenotypes[J].Eur J Med Genet,2020,63(4):103831.

    [4]

    Kim H,Lee CH,Pak H,et al.GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia:GENRE-FH study[J]..Sci Rep,2020,10(1):19336.

    [5]

    Khera AV,Chaffin M,Aragam KG,et al.Genomewide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations[J].Nat Genet,2018,50(9):1219-1224.

    [6]

    Catapano AL,Graham I,Backer GD,et al.2016ESC/EAS Guidelines for the Management of Dyslipidaemias:The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology(ESC)and European Atherosclerosis Society(EAS)Developed with the special contribution of the European Assocciation for Cardiovascular Prevention&Rehabilitation(EACPR)[J].Atherosclerosis,2016.253:281-344.

    [7]

    ESC Committee for Practice Guidelines(CPG),ESCNational Cardiac Societies.2019 ESC/EAS guidelines for the management of dyslipidaemias:Lipid modification to reduce cardiovascular risk[J].Atherosclerosis,2019.290:140-205.

    [8]

    Cuchel M,Bruckert E,Ginsberg HN,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[J].Eur Heart J,2014,35(32):2146-2157.

    [9]

    Thompson GR,Blom DJ,Marais AD,et al.Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol[J].Eur Heart J,2018,39(14):1162-1168.

    [10]

    Quintão ECR.Plasma non-cholesterol sterols as markers of cholesterol synthesis and intestinal absorption:a critical review[J].Curr Pharm Des,2020,26(40):5152-5162.

    [11]

    Avis HJ,Vissers MN,Stein EA,et al.A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia[J].Arterioscler Thromb Vasc Biol,2007,27(8):1803-1810.

    [12]

    Braamskamp M,Langslet G,McCrindle BW,et al.Effect of Rosuvastatin on Carotid Intima-Media Thickness in Children With Heterozygous Familial Hypercholesterolemia:The CHARON Study(Hypercholesterolemia in Children and Adolescents Taking Rosuvastatin Open Label)[J].Circulation,2017,136(4):359-366.

    [13]

    Harada-Shiba M,Kastelein J,Hovingh GK,et al.Efficacy and Safety of Pitavastatin in Children and Adolescents with Familial Hypercholesterolemia in Japan and Europe[J].J Atheroscler Thromb,2018,25(5):422-429.

    [14]

    Galema-Boers AM,Lenzen MJ,Engelkes SR,et al.Cardiovascular risk in patients with familial hypercholesterolemia using optimal lipid-lowering therapy[J].J Clin Lipidol,2018,12(2):409-416.

    [15]

    Cannon CP,Blazing MA,Giugliano RP,et al.Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes[J].N Engl J Med,2015,372(25):2387-2397.

    [16]

    Tsujita K,Sugiyama S,Sumida H,et al.Impact of Dual Lipid-Lowering Strategy With Ezetimibe and Atorvastatin on Coronary Plaque Regression in Patients With Percutaneous Coronary Intervention:The Multicenter Randomized Controlled PRECISE-IVUS Trial[J].J Am Coll Cardiol,2015,66(5):495-507.

    [17]

    Michalek A.[Commentary to the article:Kastelein JJ,Akdim F,Stroes ES,et al.;ENHANCE Investigators.Simvastatin with or without ezetimibe in familial hypercholesterolemia.N Engl J Med 2008;358:1431-43][J].Kardiol Pol,2008,66(5):597-598,discussion 598-599.

    [18]

    Melendez QM,Wooten CJ,Krishnaji ST,et al.Identification of Novel Proteins Interacting with Proprotein Convertase Subtilisin/Kexin 9[J].Int J Biomed Investig,2020,3(1).

    [19]

    Kastelein JJ,Ginsberg HN,Langslet G,et al.ODYS-SEY FH I and FH II:78week results with alirocumab treatment in 735patients with heterozygous familial hypercholesterolaemia[J].Eur Heart J,2015,36(43):2996-3003.

    [20]

    Catapano AL,Pirillo A,Norata GD.Anti-PCSK9antibodies for the treatment of heterozygous familial hypercholesterolemia:patient selection and perspectives[J].Vasc Health Risk Manag,2017,13:343-351.

    [21]

    Zhou XY,Wang SH,Zhu YJ,et al.Overcoming the delivery barrier of oligonucleotide drugs and enhancing nucleoside drug efficiency:The use of nucleolipids[J].2020,40(4):1178-1199.

    [22]

    Raal FJ,Santos RD,Blom DJ,et al.Mipomersen,an apolipoprotein B synthesis inhibitor,for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia:a randomised,double-blind,placebo-controlled trial[J].Lancet,2010,375(9719):998-1006.

    [23]

    Santos RD,Duell PB,East C,et al.Long-term efficacy and safety of mipomersen in patients with familial hypercholesterolaemia:2-year interim results of an openlabel extension[J].Eur Heart J,2015,36(9):566-575.

    [24]

    Soppert J,Lehrke M,Marx N,et al.Lipoproteins and lipids in cardiovascular disease:from mechanistic insights to therapeutic targeting[J].Adv Drug Deliv Rev,2020,159:4-33.

    [25]

    Baudy AR,Otieno MA,Hewitt P,et al.Liver microphysiological systems development guidelines for safety risk assessment in the pharmaceutical industry[J].Lab Chip,2020,20(2):215-225.

    [26]

    Goldberg AC.Emerging low-density lipoprotein therapies:Microsomal triglyceride transfer protein inhibitors[J].J Clin Lipidol,2013,7(3Suppl):S16-S20.

    [27]

    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,phase3study[J].Lancet,2013,381(9860):40-46.

    [28]

    Blom DJ,Fayad ZA,Kastelein JJP,et al.LOWER,a registry of lomitapide-treated patients with homozygous familial hypercholesterolemia:Rationale and design[J].J Clin Lipidol,2016,10(2):273-282.

    [29]

    Moriarty PM,Parhofer KG,Babirak SP,et al.Alirocumab in patients with heterozygous familial hypercholesterolaemia undergoing lipoprotein apheresis:the ODYSSEY ESCAPE trial[J].Eur Heart J,2016,37(48):3588-3595.

    [30]

    Mlinaric M,Bratanic N,Dragos V,et al.Case Report:Liver Transplantation in Homozygous Familial Hypercholesterolemia(HoFH)-Long-Term Follow-Up of a Patient and Literature Review[J].Front Pediatr,2020,8:567895.

    [31]

    Ibrahim M,El-Hamamsy I,Barbir M,et al.Translational lessons from a case of combined heart and liver transplantation for familial hypercholesterolemia 20years post-operatively[J].J Cardiovasc Transl Res,2012,5(3):351-358.

    [32]

    Ray KK,Landmesser U,Leiter LA,et al.Inclisiran in Patients at High Cardiovascular Risk with Elevated LDL Cholesterol[J].N Engl J Med,2017,376(15):1430-1440.

    [33]

    Wang Y,Gusarova V,Banfi S,et al.Inactivation of ANGPTL3reduces hepatic VLDL-triglyceride secretion[J].J Lipid Res,2015,56(7):1296-1307.

    [34]

    Gaudet D,Gipe DA,Pordy R,et al.ANGPTL3Inhibition in Homozygous Familial Hypercholesterolemia[J].N Engl J Med,2017,377(3):296-297.

    [35]

    Stein E,Bays H,Koren M,et al.Efficacy and safety of gemcabene as add-on to stable statin therapy in hypercholesterolemic patients[J].J Clin Lipidol,2016,10(5):1212-1222.

    [36]

    Khera AV,Won HH,Peloso GM,et al.Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia[J].J Am Coll Cardiol,2016,67(22):2578-2589.

    [37]

    Mundal LJ,Igland J,Veierød MB,et al.Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia[J].2018,104(19):1600-1607.

    [38]

    姚纯,赵水平.家族性高胆固醇血症诊治新进展[J].临床心血管病杂志,2019,35(12):1075-1079.

    [39]

    Li S,Wu NQ,Zhu CG,et al.Significance of lipoprotein(a)levels in familial hypercholesterolemia and coronary artery disease[J].Atherosclerosis,2017,260:67-74.

  • 加载中
计量
  • 文章访问数:  1571
  • PDF下载数:  1
  • 施引文献:  0
出版历程
收稿日期:  2020-10-15
修回日期:  2020-11-24

目录