李为民,刘怡希

• 1:哈尔滨医科大学附属第一医院心内科

摘要(Abstract)：

<正>家族性高胆固醇血症(familial hypercholesterolaemia,FH)是以血浆低密度脂蛋白胆固醇(LDL-C)升高、外周组织黄色瘤、动脉粥样硬化及早发冠心病为特征的常染色体显性单基因遗传病。但是,目前该病相应的诊断、管理指南不足,世界范围内缺乏对该病的规范管理。为精确评估FH诊断及患病率,同时为患者提供规范的诊疗方案,欧洲动脉粥样硬化学会(European Atherosclerosis Society,EAS)首次发表了FH诊治共识[1]。1 FH诊断率及治疗率低

关键词(KeyWords)：

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 李为民,刘怡希

参考文献(References)：

• [1]Nordestgaard B,Chapman M,Humphries S,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[J].Eur Heart J,2013[Epub ahead of print].
• [2]Marong-van M,van Maarle MC,Stouthard ME.Getting insurance after genetic screening on familial hypercholesterolaemia;the need to educate both insurers and the public to increase adherence to national guidelinges in The Netherlands[J].J Epidemiol Community Health,2002,56(2):145-157.
• [3]Pijlman AH,Huijgen R,Verhagen SN,et al.Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia:a large cross-sectional study in the Netherlands[J].Atherosclerosis,2010,209(1):189-194.
• [4]Bates TR,Burnett JR,van Bockxmeer FM,et al.Detection of familial hypercholesterolaemia:a major treatment gap in preventative cardiology[J].Heart Lung Circ,2008,17(5):411-413.
• [5]Ben M,Watts G,Tybjaerg-Hansen A,et al.Familial hypercholesterolemia in the Danish general population:prevalence,coronary artery disease,and cholesterol-lowering medication[J].J Clin Endocrinol Metab,2012,97(11):3956-3964.
• [6]Jansen AC,van Aalst-Cohen ES,Tanck MW,et al.The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia:data in 2400 patients[J].J Intern Med,2004,256(6):482-490.
• [7]Civeira F.Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia[J].Atherosclerosis,2004,173(1):55-68.
• [8]Sullivan D,CSANZ Cardiovascular Genetics Working Group.Guidelines or the diagnosis and management of familial hypercholesterolaemia[J].Heart Lung Circ,2007,16(1):25-27.
• [9]Vaverkova H,Soska V,Rosolova H,et al.Czech atherosclerosis society guidelines for the diagnosis and treatment of dyslipidemia in adults[J].Cas Lek Cesk,2007,146(6):2-15.
• [10]The task force for the management of dyslipidaemias of the European Society of Cardiology(ESC)and the European Atherosclerosis Society(EAS).ESC/EAS Guidelines for the management of dyslipidaemias[J].Eur Heart J,2011,32:1769-1818.
• [11]Baigent C,Blackwell L,Emberson J,et al.Efficacy and safety of more intensive lowering of LDL cholesterol:a meta-analysis of data from 170,000 participants in 26 randomised trials[J].Lancet,2010,376(9753):1670-1681.
• [12]Broekhuizen K,Jelsma GJ,van Poppel NM,et al.Is the process of delivery of an individually tailored lifestyle intervention associated with improvements in LDL cholesterol and multiple lifestyle behaviors in people with Familial Hypercholesterolemia?[J].BMC Public Health,2012,12:348.
• [13]Perk J,De BG,Gohlke H,et al.European Guidelines on cardiovascular disease prevention in clinical practice:The Fifth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice[J].Atherosclerosis,2012,223(1):1-68.
• [14]Stefanutti C.Treatment of severe genetic dyslipidemia:where are we going?[J].Ther Apher Dial,2013,17(2):122-123.
• [15]Stefanutti C,Vivenzio A,Ferraro PM,et al.Apheresis-inducible cytokine pattern change in severe,genetic dyslipidemias[J].Cytokine,2011,56(3):835-841.
• [16]Rodenburg J,Vissers MN,Wiegman A,et al.Statin treatment in children with familial hypercholesterolemia:the younger,the better[J].Circulation,2007,116(6):664-668.
• [17]代艳芳,孙立元,张新波,等.中国人群家族性高胆固醇血症LDLR基因突变研究进展[J].遗传,2011,33(1):1-8.
• [18]陆宗良.脂质代谢异常与冠心病[M].北京:人民军医出版社,1998:77.