国内外罕见病患者的保障体系研究:以纯合子型家族性高胆固醇血症为例
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摘要
纯合子型家族性高胆固醇血症(homozygous familial hypercholesterolemia, HoFH)是一种代谢系统遗传性疾病,患病人数极少,是一种罕见病。本研究通过系统评价,从基础信息、临床服务、药物保障等三方面梳理和比较国内外HoFH患者的保障情况。本研究发现,发达国家在HoFH的指南开发、新药研发和保障等方面已有较多经验,HoFH保障体系相对健全;而中国有关HoFH的保障措施虽然正加快推进,包括开展筛查项目、加速药物上市、制定诊疗指南等,但总的来说,保障体系尚不健全。因此,亟需借鉴国外经验并结合实际情况,建立和完善HoFH保障体系。
Homozygous Familial Hypercholesterolemia(HoFH) is an extremely rare hereditary disease of metabolic system, with few patients. This study sorts out and compares the security situation of patients with HoFH at home and abroad, in terms of basic information, clinical services and pharmaceutical support, etc, by a systematic review. It is found in this study that the developed countries have more experience in developing HoFH guidelines, new drug research and development as well as security, etc, and their HoFH safeguard systems are also relatively sound. Although China is accelerating the pace of safeguard measures, including conducting screening programs, accelerating market access of drugs and formulating guidelines for diagnosis and treatment, etc,generally, the HoFH safeguard system is still far from sound. Therefore, it is urgent for China to learn from foreign experience and combine with the actual situation to establish and perfect the HoFH security system.
Homozygous Familial Hypercholesterolemia(HoFH) is an extremely rare hereditary disease of metabolic system, with few patients. This study sorts out and compares the security situation of patients with HoFH at home and abroad, in terms of basic information, clinical services and pharmaceutical support, etc, by a systematic review. It is found in this study that the developed countries have more experience in developing HoFH guidelines, new drug research and development as well as security, etc, and their HoFH safeguard systems are also relatively sound. Although China is accelerating the pace of safeguard measures, including conducting screening programs, accelerating market access of drugs and formulating guidelines for diagnosis and treatment, etc,generally, the HoFH safeguard system is still far from sound. Therefore, it is urgent for China to learn from foreign experience and combine with the actual situation to establish and perfect the HoFH security system.
引文
[1]陈盼盼,陆叶,王绿娅.纯合子型家族性高胆固醇血症临床诊疗进展[J].中国介入心脏病学杂志,2017,25(6):357-360.
[2]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.
[3]Moorjani S,Roy M,GagnéC,et al.Homozygous familial hypercholesterolemia among French Canadians in Québec Province[J].Arteriosclerosis,1989,9(2):211-216.
[4]Seftel HC,Baker SG,Sandler MP,et al.A host of hypercholesterolaemic homozygotes in South Africa[J].Br Med J,1980,281(6241):633-636.
[5]Orphanet.Homozygous familial hypercholesterolemia[EB/OL].[2018-12-08].https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=22639&Disease_Disease_Search_diseaseGroup=HoFH&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Homozygous-familial-hypercholesterolemia&titl e=Homozygous%20familial%20hypercholesterolemia&search=Disea se_Search_Simple.
[6]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.
[7]石鑫淼,刘徽,王琳,等.基于中国1500万余例次住院病例的121种罕见病现况分析[J].中华医学杂志,2018,98(40):3274-3278.
[8]国际循环网.2018CCCP&SCC|常敏之教授畅谈家族性高胆固醇血症的治疗进展[EB/OL].[2018-12-03].http://www.icirculation.com/article/NewsInfo.aspx?id=32478.
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[10]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.
[11]Walzer S,Travers K,Rieder S,et al.Homozygous familial hypercholesterolemia(HoFH)in Germany:an epidemiological survey[J].Clinicoecon Outcomes Res,2013(5):189-192.
[12]Sjouke B,Kusters DM,Kindt I,et al.Homozygous autosomal dominant hypercholesterolaemia in the Netherlands:prevalence,genotype-phenotype relationship,and clinical outcome[J].Eur Heart J,2015,36(9):560-565.
[13]Sánchez-Hernández RM,Civeira F,Stef M,et al.Homozygous Familial Hypercholesterolemia in Spain:Prevalence and PhenotypeGenotype Relationship[J].Circ Cardiovasc Genet,2016,9(6):504-510.
[14]Song P,Tang W,Kokudo N.Rare diseases and orphan drugs in Japan:developing multiple strategies of regulation and research[J].Expert Opinion on Orphan Drugs,2013,1(9):681-683.
[15]Japan Intractable Diseases Information Center.Explanation of disease[EB/OL].[2018-12-03].http://www.nanbyou.or.jp/entry/5479/#02.
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[17]上海四叶草罕见病家庭关爱中心.大事记[EB/OL].[2019-03-04].http://www.cord.org.cn/intro/6.html.
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[19]台湾省“卫生福利部国民健康署”.什么是罕见疾病?[EB/OL].[2019-03-03].https://www.hpa.gov.tw/Pages/Detail.aspx?nodeid=805&pid=4298.
[20]台湾省“卫生福利部”.罕见疾病防治及药物法[EB/OL].[2019-03-03].https://law.moj.gov.tw/LawClass/LawContent.aspx?PCODE=L0030003.
[21]“卫生福利部食品药物管理署”.适用“罕见疾病防治及药物法”之药物年报[EB/OL].[2019-03-03].http://www.pharmaceutic.idv.tw/report/download/107%E5%B9%B4%E8%97%A5%E7%89%A9%E5%B9%B4%E5%A0%B1.pdf.
[22]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.
[23]国家卫生健康委办公厅.罕见病诊疗指南(2019年版)[EB/OL].[2019-03-04].http://www.nhc.gov.cn/yzygj/s7659/201902/61d06b4916c348e0810ce1fceb844333.shtml?from=message&isappin stalled=0.
[24]Nordestgaard BG,Chapman MJ,Humphries SE,et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population:guidance for clinicians to prevent coronaryheart disease:consensus statement of the European Atherosclerosis Society[J].Eur Heart J,2013,34(45):3478-3490a.
[25]Grundy SM,Arai H,Barter P,et al.An International Atherosclerosis Society Position Paper:Global recommendations for the management of dyslipidemia:Executive summary[J].Atherosclerosis,2014,232(2):410-413.
[26]Watts GF,Gidding S,Wierzbicki AS,et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation[J].Int J Cardiol,2014,171(3):309-325.
[27]Catapano AL,Graham I,De Backer G,et al.2016 ESC/EASGuidelines for the Management of Dyslipidaemias[J].Rev Esp Cardiol(Engl Ed),2017,70(2):115.
[28]Santos RD,Gidding SS,Hegele RA,et al.Defining severe familial hypercholesterolaemia and the implications for clinical management:a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel[J].Lancet Diabetes Endocrinol,2016,4(10):850-861.
[29]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.
[30]陈静.可治性罕见病[M].上海:上海交通大学出版社,2017:56.
[31]张抒扬.中国第一批罕见病目录释义(手册版)[M].北京:人民卫生出版社,2018:35.
[32]Benn M,Watts GF,Tybjaerg-Hansen A,et al.Familial hypercholesterolemia in the danish general population:prevalence,coronary artery disease,and cholesterol-lowering medication[J].JClin Endocrinol Metab,2012,97(11):3956-3964.
[33]国家卫生健康委办公厅.关于建立全国罕见病诊疗协作网的通知[EB/OL].[2019-03-04].http://www.nhc.gov.cn/yzygj/s7659/201902/3a8228589bf94e6d9356008763387cc4.shtml.
[34]北京市卫生健康委员会.关于加强罕见病医疗服务工作的通知[EB/OL].[2019-03-04].http://wjw.beijing.gov.cn/zwgk/ylws/201811/t20181130_257910.htm.
[35]张筠婷,王绿娅.家族性高胆固醇血症患者管理策略的近况[J].现代生物医学进展,2008,8(8):1553-1556.
[36]“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.
[37]中国家族高胆固醇血症卓越中心授牌仪式在沪成功举行[EB/OL].[2018-03-26].http://heart.dxy.cn/article/520085.
[38]European Atherosclerosis Society.The EAS-FH Studies Collaboration(FHSC)[EB/OL].[2019-03-03].https://www.eas-society.org/page/fhsc.
[39]Steinhagen-Thiessen E,Stroes E,Soran H,et al.The role of registries in rare genetic lipid disorders:Review and introduction of the first global registry in lipoprotein lipase deficiency[J].Atherosclerosis,2017(262):146-153.
[40]国家食品药品监督管理总局药品审评中心.关于征求境外已上市临床急需新药名单意见的通知[EB/OL].[2019-03-04].http://www.cde.org.cn/news.do?method=largeInfo&id=314651.
[41]国家药品监督管理局,国家卫生健康委员会.关于临床急需境外新药审评审批相关事宜的公告(2018年第79号)[EB/OL].[2019-03-04].http://www.sdaqh.gov.cn/html/20181031/n805126659.html.
[42]国家食品药品监督管理总局药品审评中心.关于发布第一批临床急需境外新药名单的通知[EB/OL].[2019-03-04].http://www.cde.org.cn/news.do?method=largeInfo&id=313990.
[43]国家药品监督管理局药品审评中心.关于第二批临床急需境外新药的公示[EB/OL].[2019-03-28].http://www.cde.org.cn/news.do?method=viewInfoCommon&id=314835.
[44]国家食品药品监督管理总局药品审评中心.关于发布《首批专利权到期、终止、无效且尚无仿制申请的药品清单》的通知[EB/OL].[2019-03-04].http://www.cde.org.cn/news.do?method=largeInfo&id=314310.
[45]Milani RV,Lavie CJ.Lipid control in the modern era:an orphan's tale of rags to riches[J].J Am Coll Cardiol,2013,62(23):2185-2187.
[46]胡善联.高价特药应用的理想与现实[N].医药经济报,2018-08-02.
[47]中华人民共和国人力资源社会保障部.关于印发国家基本医疗保险、工伤保险和生育保险药品目录(2017年版)的通知[EB/OL].[2019-03-04].http://www.mohrss.gov.cn/SYrlzyhshbzb/shehuibao zhang/zcwj/yiliao/201702/t20170223_266775.html.
[2]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.
[3]Moorjani S,Roy M,GagnéC,et al.Homozygous familial hypercholesterolemia among French Canadians in Québec Province[J].Arteriosclerosis,1989,9(2):211-216.
[4]Seftel HC,Baker SG,Sandler MP,et al.A host of hypercholesterolaemic homozygotes in South Africa[J].Br Med J,1980,281(6241):633-636.
[5]Orphanet.Homozygous familial hypercholesterolemia[EB/OL].[2018-12-08].https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=22639&Disease_Disease_Search_diseaseGroup=HoFH&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Homozygous-familial-hypercholesterolemia&titl e=Homozygous%20familial%20hypercholesterolemia&search=Disea se_Search_Simple.
[6]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.
[7]石鑫淼,刘徽,王琳,等.基于中国1500万余例次住院病例的121种罕见病现况分析[J].中华医学杂志,2018,98(40):3274-3278.
[8]国际循环网.2018CCCP&SCC|常敏之教授畅谈家族性高胆固醇血症的治疗进展[EB/OL].[2018-12-03].http://www.icirculation.com/article/NewsInfo.aspx?id=32478.
[9]中国台湾地区“卫生福利部中央健康保险署”.罕见疾病通报个案统计表[EB/OL].[2019-03-03].https://www.hpa.gov.tw/Pages/ashx/File.ashx?FilePath=~/File/Attach/10070/File_9489.pdf.
[10]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.
[11]Walzer S,Travers K,Rieder S,et al.Homozygous familial hypercholesterolemia(HoFH)in Germany:an epidemiological survey[J].Clinicoecon Outcomes Res,2013(5):189-192.
[12]Sjouke B,Kusters DM,Kindt I,et al.Homozygous autosomal dominant hypercholesterolaemia in the Netherlands:prevalence,genotype-phenotype relationship,and clinical outcome[J].Eur Heart J,2015,36(9):560-565.
[13]Sánchez-Hernández RM,Civeira F,Stef M,et al.Homozygous Familial Hypercholesterolemia in Spain:Prevalence and PhenotypeGenotype Relationship[J].Circ Cardiovasc Genet,2016,9(6):504-510.
[14]Song P,Tang W,Kokudo N.Rare diseases and orphan drugs in Japan:developing multiple strategies of regulation and research[J].Expert Opinion on Orphan Drugs,2013,1(9):681-683.
[15]Japan Intractable Diseases Information Center.Explanation of disease[EB/OL].[2018-12-03].http://www.nanbyou.or.jp/entry/5479/#02.
[16]上海市卫生和计划生育委员会.关于印发《上海市主要罕见病名录(2016年版)》的通知[EB/OL].[2019-03-04].http://www.wsjsw.gov.cn/fybj2/20180815/59645.html.
[17]上海四叶草罕见病家庭关爱中心.大事记[EB/OL].[2019-03-04].http://www.cord.org.cn/intro/6.html.
[18]国家卫生健康委员会,科技部,工业和信息化部,等.关于公布第一批罕见病目录的通知[EB/OL].[2019-01-16].http://www.nhfpc.gov.cn/yzygj/s7659/201806/393a9a37f39c4b458d6e830f40a4bb99.shtml.
[19]台湾省“卫生福利部国民健康署”.什么是罕见疾病?[EB/OL].[2019-03-03].https://www.hpa.gov.tw/Pages/Detail.aspx?nodeid=805&pid=4298.
[20]台湾省“卫生福利部”.罕见疾病防治及药物法[EB/OL].[2019-03-03].https://law.moj.gov.tw/LawClass/LawContent.aspx?PCODE=L0030003.
[21]“卫生福利部食品药物管理署”.适用“罕见疾病防治及药物法”之药物年报[EB/OL].[2019-03-03].http://www.pharmaceutic.idv.tw/report/download/107%E5%B9%B4%E8%97%A5%E7%89%A9%E5%B9%B4%E5%A0%B1.pdf.
[22]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.
[23]国家卫生健康委办公厅.罕见病诊疗指南(2019年版)[EB/OL].[2019-03-04].http://www.nhc.gov.cn/yzygj/s7659/201902/61d06b4916c348e0810ce1fceb844333.shtml?from=message&isappin stalled=0.
[24]Nordestgaard BG,Chapman MJ,Humphries SE,et al.Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population:guidance for clinicians to prevent coronaryheart disease:consensus statement of the European Atherosclerosis Society[J].Eur Heart J,2013,34(45):3478-3490a.
[25]Grundy SM,Arai H,Barter P,et al.An International Atherosclerosis Society Position Paper:Global recommendations for the management of dyslipidemia:Executive summary[J].Atherosclerosis,2014,232(2):410-413.
[26]Watts GF,Gidding S,Wierzbicki AS,et al.Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation[J].Int J Cardiol,2014,171(3):309-325.
[27]Catapano AL,Graham I,De Backer G,et al.2016 ESC/EASGuidelines for the Management of Dyslipidaemias[J].Rev Esp Cardiol(Engl Ed),2017,70(2):115.
[28]Santos RD,Gidding SS,Hegele RA,et al.Defining severe familial hypercholesterolaemia and the implications for clinical management:a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel[J].Lancet Diabetes Endocrinol,2016,4(10):850-861.
[29]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.
[30]陈静.可治性罕见病[M].上海:上海交通大学出版社,2017:56.
[31]张抒扬.中国第一批罕见病目录释义(手册版)[M].北京:人民卫生出版社,2018:35.
[32]Benn M,Watts GF,Tybjaerg-Hansen A,et al.Familial hypercholesterolemia in the danish general population:prevalence,coronary artery disease,and cholesterol-lowering medication[J].JClin Endocrinol Metab,2012,97(11):3956-3964.
[33]国家卫生健康委办公厅.关于建立全国罕见病诊疗协作网的通知[EB/OL].[2019-03-04].http://www.nhc.gov.cn/yzygj/s7659/201902/3a8228589bf94e6d9356008763387cc4.shtml.
[34]北京市卫生健康委员会.关于加强罕见病医疗服务工作的通知[EB/OL].[2019-03-04].http://wjw.beijing.gov.cn/zwgk/ylws/201811/t20181130_257910.htm.
[35]张筠婷,王绿娅.家族性高胆固醇血症患者管理策略的近况[J].现代生物医学进展,2008,8(8):1553-1556.
[36]“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.
[37]中国家族高胆固醇血症卓越中心授牌仪式在沪成功举行[EB/OL].[2018-03-26].http://heart.dxy.cn/article/520085.
[38]European Atherosclerosis Society.The EAS-FH Studies Collaboration(FHSC)[EB/OL].[2019-03-03].https://www.eas-society.org/page/fhsc.
[39]Steinhagen-Thiessen E,Stroes E,Soran H,et al.The role of registries in rare genetic lipid disorders:Review and introduction of the first global registry in lipoprotein lipase deficiency[J].Atherosclerosis,2017(262):146-153.
[40]国家食品药品监督管理总局药品审评中心.关于征求境外已上市临床急需新药名单意见的通知[EB/OL].[2019-03-04].http://www.cde.org.cn/news.do?method=largeInfo&id=314651.
[41]国家药品监督管理局,国家卫生健康委员会.关于临床急需境外新药审评审批相关事宜的公告(2018年第79号)[EB/OL].[2019-03-04].http://www.sdaqh.gov.cn/html/20181031/n805126659.html.
[42]国家食品药品监督管理总局药品审评中心.关于发布第一批临床急需境外新药名单的通知[EB/OL].[2019-03-04].http://www.cde.org.cn/news.do?method=largeInfo&id=313990.
[43]国家药品监督管理局药品审评中心.关于第二批临床急需境外新药的公示[EB/OL].[2019-03-28].http://www.cde.org.cn/news.do?method=viewInfoCommon&id=314835.
[44]国家食品药品监督管理总局药品审评中心.关于发布《首批专利权到期、终止、无效且尚无仿制申请的药品清单》的通知[EB/OL].[2019-03-04].http://www.cde.org.cn/news.do?method=largeInfo&id=314310.
[45]Milani RV,Lavie CJ.Lipid control in the modern era:an orphan's tale of rags to riches[J].J Am Coll Cardiol,2013,62(23):2185-2187.
[46]胡善联.高价特药应用的理想与现实[N].医药经济报,2018-08-02.
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