易栓症——神内病例

易栓症,Normal hemostasis（止血）,adhesion 粘附,aggregation 聚集,coagulation pathway 凝血途径,Coagulation balance,anticoagulantmechanisms,procoagulantmechanisms,fibrin formation,Fibrinmonomer,Endothelial cell surface,coagulation factors anticoagulant proteinsgain-of-function mutations fibrinolysis antiphospholipid Ab,fibrin formation,anticoagulantmechanisms,procoagulantmechanisms,易栓症（Thrombophlilia）,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。不是单一的疾病。血栓栓塞类型：静脉血栓栓塞,Annual incidence of DVT,Whites 0.8-1.2 x 1000Hong Kong Chinese 0.16 x 1000 Liu et al, Hong Kong Med J 2002,rate ratio (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 secondary,VTE: a multifactorial disease,acquired,genetic,mixed,transient,VTE,risk factors, the old story.,deficiency of anticoagulant proteins year of discovery antithrombin 1965 protein C 1981 protein S 1984,ANTITHROMBIN, PROTEIN C, PROTEIN S:type of deficiency,Type I:Quantitative deficiency,Type II:Qualitative deficiency, antigenic test, functional test, functional test,= antigenic test,Prevalence of deficiencies,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 deficiencies,increase relative risk antithrombin 5 - 50 protein C 7 - 15 protein S 6 - 10,year of discovery resistance to activated protein C 1993/94and factor V Leiden (G1691A)prothrombin mutation (G20210A) 1996, the old story.,older agecancerantiphospholipid antibodiesprevious venous thromboembolism,Age and VTE,0-9,10-19,20-29,30-39,40-49,50-59,60-69,70-79,79,600,500,400,300,200,100,0,Anderson et al, 1991,Incidence Rate per 100,000,Females,Males,Cancer and VTE,Tissue factor, constitutive of malignant cells, promotes angiogenesis and increases plasmin production (metastases)Prothrombotic cancer substances (cancer procoagulant, IL1, TNF, etc.)The risk of VTE is higher if chemotherapy (tamoxifen, thalidomide, L-asparaginase)VTE and occult cancer,year of discoveryhyperhomocysteinemia 1994high factor VIII 1995, the old story.,surgery and major traumaprolonged immobilizationpregnancy/puerperium (6 weeks postpartum)oral contraceptives/hormone replacement therapy,year of discoveryActivated protein C resistance 1993Air travel 1999,F：family history（尤其是强家族史，即家族中有至少两例同类型血栓患者）U：unusual locations of thrombosis（腹腔、颅内等部位）R：recurrent episodes of thrombosisY：year（45y）符合上述任1条均建议筛查易栓症指标,FURY,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：检测结果 / 报告有误;接受维生素K拮抗剂的患者或者维生素K缺乏症患者诊断PC或PS缺乏时;接受维生素K拮抗剂 (可增加AT浓度) 的患者排除AT缺乏时;仅凭一次检测结果诊断PC、PS或AT缺乏;急性VT或其他疾病时取血诊断或排除任何一种易栓症;仅凭一次检测结果诊断抗磷脂抗体综合征;检测项目选用不当。,易栓症延长疗程抗凝的指征一种以上危险因素(不包括同型半胱氨酸升高)抗凝蛋白缺乏，尤其是AT缺乏 抗磷脂抗体综合征获得性危险因素持续