《易栓症神内病例》由会员分享，可在线阅读，更多相关《易栓症神内病例（28页珍藏版）》请在金锄头文库上搜索。
1、易栓症Normal hemostasis（止血）VIIVIITF-VIIaXXaIIIIaFbgnFibrinsIXTFFibrinpVIIIVTFTF-VIIaIXaadhesion粘附aggregation聚集coagulation pathway 凝血途径Coagulation balance anticoagulant mechanismsprocoagulant mechanismsfibrin formation(VIIa)Xa , IXaCa2+ VIIaIIaTM+IIaVIIaIIaCoagulation waterfallPrecallicrein aXIIXIIaXIXI
2、aIXIXaTFXXaVIIIaVaIIIIaFibrinclotXIIIa XIIIChininogenProtein CAPCPSInhibitionIIaVVIIa VIICallicreinFibrinogenPlasminogen PAI-1PlasminVIIITFPIAntithrombinAPC inhibitorCa2+Ca2+Ca2+Ca2+Fibrin monomerEndothelial cell surfacecoagulation factors anticoagulant proteins gain-of-function mutations fibrinolys
3、isantiphospholipid Abfibrin formationanticoagulant mechanismsprocoagulant mechanisms易栓症（Thrombophlilia）l指由于抗凝蛋白、凝血因子、纤溶蛋白等的遗 传性或获得性缺陷，或存在获得性危险因素， 而容易发生血栓栓塞的疾病状态。l不是单一的疾病。l血栓栓塞类型：静脉血栓栓塞Annual incidence of DVT Whites 0.8-1.2 x 1000 Hong Kong Chinese 0.16 x 1000Liu et al, Hong Kong Med J 2002rate ratio
4、 (vs white)African Americans 1.27 (1.07-1.51) Hispanic 0.60 (0.54-0.67) Asians/Pacific Islanders 0.26 (0.22-0.30)*White et al, Ann Intern Med 1998*idiopathic or secondaryVTE: a multifactorial diseaseacquiredgeneticmixedtransientVTErisk factors the old story.Geneticrisk factorsinherited thrombophilia
5、deficiency of anticoagulant proteins year of discoveryantithrombin 1965protein C 1981protein S 1984ANTITHROMBIN, PROTEIN C, PROTEIN S: type of deficiencyType I: Quantitative deficiencyType II: Qualitative deficiency antigenic test functional test functional test= antigenic testPrevalence of deficien
6、cies general unselected population VTE patients antithrombin 0.02 - 0.2 % 1 %protein C 0.1 - 0.5 % 3 %protein S ? 1 - 2 % Risk of VTE associated with deficienciesincreaserelative risk antithrombin 5 - 50 protein C 7 - 15 protein S 6 - 10 Geneticrisk factorsinherited thrombophiliayear of discoveryres
7、istance to activated protein C 1993/94 and factor V Leiden (G1691A) prothrombin mutation (G20210A) 1996 the new story. the old story.Acquired risk factorsoften persistent (unremovable)older age cancer antiphospholipid antibodies previous venous thromboembolismAge and VTE0-9 10-19 20-29 30-39 40-49 5
8、0-59 60-69 70-79 796005004003002001000Anderson et al, 1991Incidence Rate per 100,000FemalesMalesCancer and VTE1. Tissue factor, constitutive of malignant cells, promotes angiogenesis and increases plasmin production (metastases)2. Prothrombotic cancer substances (cancer procoagulant, IL1, TNF, etc.)
9、3. The risk of VTE is higher if chemotherapy (tamoxifen, thalidomide, L-asparaginase)4. VTE and occult cancerMixed risk factorsinherited or/and acquiredyear of discovery hyperhomocysteinemia 1994 high factor VIII 1995 the new story. the old story.Transient risk factorstemporary, removablesurgery and
10、 major trauma prolonged immobilization pregnancy/puerperium (6 weeks postpartum) oral contraceptives/hormone replacement therapyTransient risk factorstemporary, removableyear of discovery Activated protein C resistance 1993 Air travel 1999 the new story.易栓症的分类遗传性易栓症获得性易栓症 一、天然凝血抑制物缺乏一、易栓疾病 1、遗传性抗凝血酶
11、缺乏症1、抗磷脂抗体综合征 2、遗传性蛋白C缺乏症2、肿瘤性疾病 3、遗传性蛋白S缺乏症3、后天性凝血因子水平增高 4、遗传性肝素辅因子-II缺乏症4、获得性抗凝蛋白缺乏 二、凝血因子缺陷5、糖尿病 1、遗传性抗活化的蛋白C症6、骨髓增生性疾病 2、凝血酶原20210A基因突变7、肾病综合征 3、异常纤维蛋白原血症8、阵发性睡眠性血红蛋白尿症 4、凝血因子XII缺乏症二、易栓状态 三、纤溶蛋白缺陷1、年龄增加1、异常纤溶酶原血症2、血栓形成既往史 2、组织型纤溶酶原活化物（tPA）缺乏3、长时间制动 3、纤溶酶原活化抑制物-1（PAI-1）增多4、创伤及围手术期 四、代谢缺陷5、妊娠和产褥期
12、1、高同型半胱氨酸血症6、口服避孕药及激素替代疗法 2、高组氨酸糖蛋白增多症l lF F：family historyfamily history（尤其是强家族史，即家（尤其是强家族史，即家 族中有至少两例同类型血栓患者）族中有至少两例同类型血栓患者）l lU U：unusual locations of thrombosisunusual locations of thrombosis（腹腔、（腹腔、 颅内等部位）颅内等部位）l lR R：recurrent episodes of thrombosisrecurrent episodes of thrombosisl lY Y：yearye
13、ar（45y45y）l l符合上述任符合上述任1 1条均建议筛查易栓症指标条均建议筛查易栓症指标FURYFURY易栓症初筛项目PT、aPTT、Fib、(TT?) 抗磷脂抗体(LA、ACA)空腹同型半胱氨酸F VIII:C蛋白C活性蛋白S活性抗凝血酶活性APC-R F V Leiden凝血酶原G20210A国内大多 三级医院 可以检测国内部分 三级医院 开展检测国外部分 医院开展 不应在血栓急性期筛查易栓症的理由1. 检测结果不影响急性期的初始治疗（除非APTT延长，考虑存在狼疮抗凝物）；2. 急性期可因轻度消耗或急性炎症，引起几种凝血成分的一过性降低或升高，包括PC、PS、AT和多种凝血因子。分析易栓症筛查结果时需防范以下误区分析易栓症筛查结果时需防范以下误区： 检测结果检测结果 / / 报告有误报告有误; ; 接受维生素接受维生素KK拮抗剂的患者或者维生素拮抗剂的患者或者
