Chinese Familial Hypercholesterolemia Management Based on Guidelines

doi:10.12114/j.issn.1007-9572.2018.00.430

Abstract

Abstract: Familial hypercholesterolemia （FH） is a lipid-metabolic autosomal dominant genetic disease characterized by elevated low-density lipoprotein cholesterol，which is a serious hazard to cardiovascular health.This article describes the etiology，common diagnostic criteria and current diagnostic rates of FH.At the same time，it outlines the latest international FH guidelines and the guidelines and diagnostic criteria issued in China for FH，and we also summarizes the current treatments of FH.On this basis，we analyzed the work and enlightenment of the treatment and management of FH in China，in order to identify FH at early stage and provide patients with better treatment.

Key words: Hyperlipoproteinemia type Ⅱ；Lipoproteins, LDL；Genetic diseases, inborn；Guidebooks；Disease management

摘要：

家族性高胆固醇血症（FH）是以低密度脂蛋白胆固醇升高为特点的严重危害心血管健康的脂代谢显性遗传疾病，本文介绍了FH的病因、常用诊断标准和现有的诊断率以及国际上针对FH发布的最新指南，同时概述了我国在FH方面发布的指南及制定的诊断标准，总结了目前FH主要治疗方案，在此基础上分析了我国在FH治疗管理方面所做的工作及得到的启示，以期能早期发现FH患者并使患者得到更好的治疗。

关键词: 高胆固醇血症Ⅱ型；脂蛋白类, LDL；遗传性疾病, 先天性；指南；疾病管理

WEN Wenhui,KUANG Zemin,WANG Lyuya. Chinese Familial Hypercholesterolemia Management Based on Guidelines[J]. Chinese General Practice, 2019, 22(5): 494-500. DOI: 10.12114/j.issn.1007-9572.2018.00.430.
温文慧,匡泽民,王绿娅. 从指南看中国家族性高胆固醇血症管理的现状[J]. 中国全科医学, 2019, 22(5): 494-500. DOI: 10.12114/j.issn.1007-9572.2018.00.430.

References

［1］中华医学会心血管病学分会动脉粥样硬化及冠心病学组，中华心血管病杂志编辑委员会.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．DOI：10.3760/cma.j.issn.0253-3758.2018.02.006.
Atherosclerosis and Coronary Heart Disease Group，Chinese Society of Cardiology，Editorial Board of Chinese Journal of Cardiology.Expert consensus on screening and diagnosis of familial hypercholesterolemia in China［J］．Chinese Journal of Cardiology，2018，46（2）：99-103．DOI：10.3760/cma.j.issn.0253-3758.2018.02.006.
［2］DO R，STITZIEL N O，WON H H，et al．Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction［J］．Nature，2015，518（7537）：102-106．DOI：10.1038/nature13917.
［3］MYANT N B.Familial defective apolipoprotein B-100：a review，including some comparisons with familial hypercholesterolaemia［J］．Atherosclerosis，1993，104（1/2）：1-18.
［4］COHEN J C，BOERWINKLE E，MOSLEY T H，et al．Sequence variations in PCSK9，low LDL，and protection against coronary heart disease［J］．N Engl J Med，2006，354（12）：1264-1272．DOI：10.1056/NEJMoa054013.
［5］FERENCE B A，GRAHAM I，TOKGOZOGLU L，et al．Impact of lipids on cardiovascular health：JACC health promotion series［J］．J Am Coll Cardiol，2018，72（10）：1141-1156．DOI：10.1016/j.jacc.2018.06.046.
［6］MACCHIAIOLO M，GAGLIARDI M G，TOSCANO A，et al．Homozygous familial hypercholesterolaemia［J］．Lancet，2012，379（9823）：1330．DOI：10.1016/S0140-6736（11）61476-1.
［7］SLACK J.Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states［J］．Lancet，1969，2（7635）：1380-1382.
［8］STONE N J，LEVY R I，FREDRICKSON D S，et al．Coronary artery disease in 116 kindred with familial typeⅡ hyperlipoproteinemia［J］．Circulation，1974，49（3）：476-488.
［9］MABUCHI H，NOHARA A，NOGUCHI T，et al．Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan［J］．Atherosclerosis，2011，214（2）：404-407．DOI：10.1016/j.atherosclerosis.2010.11.005.
［10］NORDESTGAARD B G，CHAPMAN M J，HUMPHRIES S E，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，2013，34（45）：3478-3490a．DOI：10.1093/eurheartj/eht273.
［11］ZHOU M，ZHAO D.Familial hypercholesterolemia in Asian populations［J］．J Atheroscler Thromb，2016，23（5）：539-549．DOI：10.5551/jat.34405.
［12］CUCHEL M，BRUCKERT E，GINSBERG H N，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．DOI：10.1093/eurheartj/ehu274.
［13］CIVEIRA F.Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia［J］．Atherosclerosis，2004，173（1）：55-68．DOI：10.1016/j.atherosclerosis.2003.11.010.
［14］Mortality in treated heterozygous familial hypercholesterolaemia：implications for clinical management.Scientific Steering Committee on behalf of the Simon Broome Register Group［J］．Atherosclerosis，1999，142（1）：105-112.
［15］GIDDING S S，CHAMPAGNE M A，DE FERRANTI S D，et al．The agenda for familial hypercholesterolemia：a scientific statement from the American Heart Association［J］．Circulation，2015，132（22）：2167-2192．DOI：10.1161/CIR.0000000000000297.
［16］HUMPHRIES S E，NORBURY G，LEIGH S，et al．What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia［J］．Curr Opin Lipidol，2008，19（4）：362-368．DOI：10.1097/MOL.0b013e32830636e5.
［17］WATTS G F，GIDDING S，WIERZBICKI A S，et al．Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation［J］．Int J Cardiol，2014，171（3）：309-325．DOI：10.1016/j.ijcard.2013.11.025.
［18］STURM A C，KNOWLES J W，GIDDING S S，et al．Clinical genetic testing for familial hypercholesterolemia：JACC scientific expert panel［J］．J Am Coll Cardiol，2018，72（6）：662-680．DOI：10.1016/j.jacc.2018.05.044.
［19］SHI Z，YUAN B，ZHAO D，et al．Familial hypercholesterolemia in China：prevalence and evidence of underdetection and undertreatment in a community population［J］．Int J Cardiol，2014，174（3）：834-836．DOI：10.1016/j.ijcard.2014.04.165.
［20］WATTS G F，GIDDING S，WIERZBICKI A S，et al．Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation：executive summary［J］．J Atheroscler Thromb，2014，21（4）：368-374.
［21］Correction to Lancet Diabetes Endocrinol 2016；published online May 27.http：//dx．DOI.org/10.1016/S2213-8587（16）30041-9
［J］．Lancet Diabetes Endocrinol，2016，pii：S2213-8587（16）30150-4．DOI：10.1016/S2213-8587（16）30150-4.
［22］CATAPANO A L，GRAHAM I，DE BACKER G，et al．2016 ESC/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．DOI：10.1016/j.atherosclerosis.2016.08.018.
［23］中国成人血脂异常防治指南修订联合委员会.中国成人血脂异常防治指南（2016年修订版）［J］．中国循环杂志，2016，31（10）：937-950．DOI：10.3969/j.issn.1000-3614.2016.10.001.
Joint Committee on Revision of Guidelines for Prevention and Treatment of Adult Hyperlipidemia in China.2016 Chinese guideline for the management of dyslipidemia in adults［J］．Chinese Circulation Journal，2016，31（10）：937-950．DOI：10.3969/j.issn.1000-3614.2016.10.001.
［24］RAAL F J，HONARPOUR N，BLOM D J，et al．Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia（TESLA Part B）：a randomised，double-blind，placebo-controlled trial［J］．Lancet，2015，385（9965）：341-350．DOI：10.1016/S0140-6736（14）61374-X.
［25］RAY K K，LANDMESSER U，LEITER L A，et al．Inclisiran in patients at high cardiovascular risk with elevated LDL cholesterol［J］．N Engl J Med，2017，376（15）：1430-1440．DOI：10.1056/NEJMoa1615758.
［26］DEWEY F E，GUSAROVA V，DUNBAR R L，et al．Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease［J］．N Engl J Med，2017，377（3）：211-221．DOI：10.1056/NEJMoa1612790.
［27］GAUDET D，GIPE D A，PORDY R，et al．ANGPTL3 inhibition in homozygous familial hypercholesterolemia［J］．N Engl J Med，2017，377（3）：296-297．DOI：10.1056/NEJMc1705994.
［28］Endotext［M］．South Dartmouth：MDText.com，Inc，2000.
［29］“中国家族性高胆固醇血症门诊筛查项目”签约和启动仪式在沪顺利召开［J］．中国介入心脏病学杂志，2016，24（6）：342.
The signing and launching ceremony of“China Family Hypercholesterolemia Outpatient Screening Project”was successfully held in Shanghai［J］．Chinese Journal of Interventional Cardiology，2016，24（6）：342.
［30］中国国家罕见病注册登记系统［J］．科技导报，2017，35（16）：99.
National rare diseases registry system of China［J］．Science & Technology Review，2017，35（16）：99.
［31］中国家族性高胆固醇血症门诊筛查项目正式启动［EB/OL］．（2016-06-03）［2018-11-15］．http：//meeting.dxy.cn/article/495139.
［32］王伟，杨娅，王蒨，等．多学科合作更好管理纯合型家族性高胆固醇血症——安贞医院经验［J］．中国介入心脏病学杂志，2017，25（11）：658-660．DOI：10.3969/j.issn.1004-8812.2017.11.012.
WANG W，YANG Y，WANG Q，et al．Multidisciplinary cooperation to better manage homozygous familial hypercholesterolemia：Anzhen Hospital experience［J］．Chinese Journal of Interventional Cardiology，2017，25（11）：658-660．DOI：10.3969/j.issn.1004-8812.2017.11.012.
［33］LANGSTED A，KAMSTRUP P R，BENN M，et al．High lipoprotein（a）as a possible cause of clinical familial hypercholesterolaemia：a prospective cohort study［J］．Lancet Diabetes Endocrinol，2016，4（7）：577-587．DOI：10.1016/S2213-8587（16）30042-0.
［34］LI S，ZHANG Y，ZHU C G，et al．Identification of familial hypercholesterolemia in patients with myocardial infarction：a Chinese cohort study［J］．J Clin Lipidol，2016，10（6）：1344-1352．DOI：10.1016/j.jacl.2016.08.013.
［35］PAPADEMETRIOU V，STAVROPOULOS K，PAPADOPOULOS C，et al．Role of PCSK9 inhibitors in high risk patients with dyslipidemia：focus on familial hypercholesterolemia［J］．Curr Pharm Des，2018．DOI：10.2174/1381612824666181010124657.
［36］我国首个PCSK9类降脂药瑞百安正式获批［EB/OL］．（2018-08-10）［2018-11-15］．http：//www.cpi.gov.cn/publish/default/hyzx/content/2018080914190611440.htm.