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1、血友病防治的进展,中国医学科学院中国协和医科大学血液学研究所血液病医院 杨仁池,概况,血友病是一种遗传性出血性疾病，呈X连锁隐性遗传。本病是由于凝血因子VIII和IX基因突变使FVIII和FIX质或量的异常所致。 血友病甲在男性人群中的患病率约为1/5000，占血友病总数的80%以上；血友病乙在男性人群中的患病率约为1/30000，占血友病总数的10%20%。 目前，本病在发展中国家（如我国）的致残率和病死率远高于发达国家。替代治疗是唯一有效的治疗措施。因此，这类患者也是发生肝炎和爱滋病的高危人群。,血友病的严重程度与出血,血友病甲和乙的分型,重型 中间型 轻型 因子水平 5 % 特征是自发出
2、血 轻微损伤出血 严重损伤、外科手术 和侵入性检查时出血 每周可出血 1- 2次 每月可出血 1次 可以从不出血 关节受累为特征 可有关节受累 关节受累罕见 (关节血肿),国内现状,无足够的凝血因子制剂 凝血因子制剂费用太高 大多数血友病病人无医疗保险 无全国性的血友病防治系统 病人组织未获官方认可 医护人员对本病认识不够 病人及其家庭成员对本病认识不够 多数医院不能对本病进行诊断（因为实验条件不具备）,WFH Global Survey 2001/2,Country Pop. Diagnosed No. HTC Percapita (106) (%) FVIII use Australia
3、19 95 15 3.0 USA 278 87 140 3.4 Germany 82 82 6 5.5 Iran 63 82 10 0.5 Russia 146 81 4 0.1 Egypt 63 75 7 0.1 South Africa 42 52 10 0.6 India 998 12 56 0.01 China 1227 5,WFH Global Survey 2004,Australia: Hemophilia 1070, vWD 804 USA: Hemophilia 14886, vWD 9801 UK: Hemophilia 6109, vWD 5582 Germany: He
4、mophilia 4800, vWD 3100 Italy: Hemophilia 5319, vWD 2275 Russia: Hemophilia 7875, vWD 3380 Thailand: Hemophilia 1325, vWD 69 Turkey: Hemophilia 1929, vWD 100 South Africa: Hemophilia 1579, vWD 463 China: Hemophilia 4131, vWD 227,WFH Global Survey 2004,调查的国家：96个 覆盖的世界人口：85% 血友病：120812例；vWD：43334例 国家数
5、据库：40个,Current Data,Tianjin Hemophilia Center:1627 Anhui Hemophilia Center: 717 Shandong Hemophilia Center: 669 Jiangsu Hematology Institute: 389 Ruijin Hospital: 341 First affiliated hospital of Sun Yet-san University: 250 Nanfang Hospital: 169 Guangdong peoples hospital: 165 Peking Union College H
6、ospital: 79 The third peoples hospital of Wenzhou: 60 Beijing Peoples Hospital: 55 Beijing children hospital: 47 First affiliated hospital of Zhejiang University: 9 Total: 4577,Hemophilia and related disorders in Tianjin Hemophilia Center (1980-2002.6),Total:1312 Hemophilia A: 988 (75.3%) Hemophilia
7、 B: 186 (14.2%) vWD：85 (6.5%) FXI deficiency：23 (1.8%) Acquired FVIII deficiency：15 (1.1%) Others：15 (1.1%),Arthropathy in different ages,0-10: 48/386(12.4%) (15.2%) 10-20: 76/251(30 .3%)(35.0%) 20-30: 73/141(51 .8%)(55.7%) 30: 74/143(51 .7%)(72.3%),AIDS in recipient of coagulation factor concentrat
8、es (1978-85),60-70% patients became infected with HIV Thousands of them have died of AIDS HIV infection increases the risk of liver failure after infection with HCV 21-fold (Estimated risk of liver failure 20 years after infection with HCV is 10%),血友病的基因治疗,世界上首例血友病基因治疗临床试验由薛京伦教授及其研究组完成 FVIII或FIX基因缺陷
9、小鼠的实验 FVIII或FIX基因缺陷犬的实验 现阶段的临床试验： 载体-AAV、腺病毒、逆转录病毒等 途径-肌肉注射、肝静脉等,血友病出血的治疗原则,早期治疗 - 2小时以内, 如有可能进行“家庭”治疗 “怀疑时治疗” 静脉穿刺时倍加小心 - 合适的针头 (21 - 25G) - 恰当的技术 - 穿刺后加压 10 - 15 分钟 避免导致血小板功能异常的药物 ( 阿斯匹林 / NSAID) 多学科方法 “综合护理”,血友病的出血部位,关节 肌肉 / 软组织 口腔 鼻衄 血尿 胃肠道 擦伤 / 撕裂伤 中枢神经系统出血 损伤相关 任何部位,替代治疗指南 出血类型 FVIII剂量（U/kg） F
10、IX剂量（U/kg） 因子水平(%) 急性关节出血 10-20，q.12h 15, q.24 30-50 肌肉内 20-30, q12h 40-60, q.24h 40-50 CNS 50, q12h, 或连续输注 100，然后50, q24h 开始100，然后 50-100，10-14d 损伤或外科 50, q12h, 或连续输注 100, q24h 100, 然后50, 至伤口开始愈合， 然后30至痊愈 咽后壁 50, q12h, 4d 40, q24h, 4d 50-70 胃肠道 50, q12h, 3d, 40, q24h, 3d 50-100 或直至出血减轻 或直至出血减轻 血尿 4
11、0，3-5d 40, 3d 50 拔牙 20,一次，EACA 40,一次，EACA 50 100mg/kg, 7-10d 100mg/kg, 7-10d 腹膜后 50, q12h, 6d 100, q24h, 6d 开始100，然后 50，直至痊愈,China A Prioritized Project, WFH,1993 1997: Education and Training 1997 2001/02: Hemophilia Twinning Centres and Treatment Centre Development 2002 2004: A Country Program with
12、 a Hemophilia Treatment Centre Network, China,China A Prioritized Project, WFH,In 1993, WFH launched a priority project to promote and improve Hemophilia Care in China. Objectives: Education Training Awareness Care improvements,Over the past 10 years significant progress has been Achieved through th
13、ree phases of planning.,1993 1997: Education and Training,Major activities focused on Hemophilia conferences for educating professionals, patients, families and hospital staff. Training, education, awareness and participation by patient groups increased. WFH fellowships were awarded to physicians, n
14、urses, technologists and surgeons. This resulted in increased professionals with expertise in the clinics.,1997 2001/02: Hemophilia Twinning Centres and Treatment Centre Development,Under the WFH Hemophilia Twinning Centre program, 4 centres were established in China. 1997 Hematology Institute, Tian
15、jin / Calgary, Canada 2000 Nanfang Hospital, Guangzhou / Ottawa, Canada 2000 Hong Kong/ London, UK 2001 Ruijin Hospital, Shanghai / Calgary and Ottawa Hemophilia Treatment Centres were developed in Jinan and Hefei.,Patient Group Activities / Leadership,Five patient leaders from four cities were identified and received leadership training in Montreal (2000) , Seville (2002) and Bangkok (2004). This group established the Hemophilia Home of China developing a website. They hav
