Montiel-Manzano Guadalupe, de la Peña-Díaz Aurora, Majluf-Cruz Abraham, Cesarman-Maus Gabriela, Corona-de la Peña Norma, Cruz-Cruz Donají, Gaminio Elizabeth, Martínez-Murillo Carlos, Mayagoitia Teresa, Miranda-Peralta Enrique, Poblete Teresita, Quintana-Martínez Sandra, Ramírez Raúl, Razo Daniel, Ruiz de Chávez-Ochoa Adriana, Reyes-Núñez Virginia Adriana, Salazar Rosario, Vicencio-Santiago Guadalupe Virginia, Villa Rosario
Laboratorio de Coagulación Especial, Hospital de Especialidades, CMN SXXI, IMSS, México, D. F.
Rev Invest Clin. 2003 May-Jun;55(3):358-69.
Thrombophilia or prothrombotic state appears when activation of blood hemostatic mechanisms overcomes the physiological anticoagulant capacity allowing a thrombotic event. Thrombosis is the leading worldwide mortality cause and due to its high associated morbidity and mortality, it should be insisted in the opportune identification of a thrombophilic state. The study of thrombophilia identifies individuals at high risk for thrombosis. This meeting was conceived first to analyze the current status of the diagnosis of thrombophilia in Mexico and second to create the base for a national consensus for thrombophilia screening and for the establishment of a national center for laboratory reference and quality control for thrombophilia. Since searching of activated protein C resistance (APCR) and FV Leiden seem to have priority either in the clinical setting and in public health services, it was decided to start with these two abnormalities as a model to analyze the current status of thrombophilia diagnosis in the clinical laboratory. At this time, several thrombophilic abnormalities have been described however, APCR remains the most important cause of thrombophilia, accounting for as much as 20% to 60% of all venous thrombosis. APCR is a consequence of the resistance of activated FV to be inactivated by activated protein C. Procoagulant activity of activated FV increases the risk of thrombosis. Hereditary APCR is almost always due to a point mutation at the nucleotide 1691 of the FV gen inducing an Arg506Glu substitution in FV molecule. This mutation is better known as FV Leiden. Heterocygous carriers of FV Leiden have a thrombotic risk 5 to 10 times higher than general population while the risk for the homocygote state is increased 50 to 100-fold. When activated PC is added to plasma from patients with FV Leiden, this last resists the anticoagulant effect of activated PC. Therefore, thrombin production is not inhibited. This phenomenon is called APCR. The functional test evaluates the partially activated thromboplastin time (aPTT) in a plasma sample before and after adding activated PC. The result is reported as a standardized sensibility index: aPTT post-activated PC/aPTT pre-activated PC. The conclusions of this national reunion pretend to optimize the available resources in our country in order to allow a wide and less-expensive diagnosis of patients with thrombosis.
当血液止血机制的激活超过生理抗凝能力从而引发血栓形成事件时，就会出现血栓形成倾向或血栓前状态。血栓形成是全球主要的死亡原因，鉴于其高发病率和死亡率，应坚持及时识别血栓形成倾向状态。对血栓形成倾向的研究可识别出有血栓形成高风险的个体。本次会议的初衷，一是分析墨西哥血栓形成倾向诊断的现状，二是为全国血栓形成倾向筛查共识以及建立全国血栓形成倾向实验室参考和质量控制中心奠定基础。由于在临床环境和公共卫生服务中，检测活化蛋白C抵抗（APCR）和FV莱顿突变似乎具有优先性，因此决定从这两种异常情况入手，作为分析临床实验室血栓形成倾向诊断现状的模型。目前，已经描述了几种血栓形成倾向异常情况，然而，APCR仍然是血栓形成倾向的最重要原因，占所有静脉血栓形成的20%至60%。APCR是活化FV对活化蛋白C灭活产生抵抗的结果。活化FV的促凝活性增加了血栓形成的风险。遗传性APCR几乎总是由于FV基因第1691位核苷酸的点突变，导致FV分子中发生Arg506Glu替换。这种突变更广为人知的名称是FV莱顿突变。FV莱顿突变的杂合子携带者发生血栓形成的风险比普通人群高5至10倍，而纯合子状态的风险则增加50至100倍。当将活化PC添加到FV莱顿突变患者的血浆中时，后者会抵抗活化PC的抗凝作用。因此，凝血酶的产生不会受到抑制。这种现象称为APCR。功能测试评估在添加活化PC前后血浆样本中的部分活化凝血活酶时间（aPTT）。结果以标准化敏感性指数报告：活化PC后aPTT/活化PC前aPTT。本次全国会议的结论旨在优化我国现有的资源，以便能够对血栓形成患者进行广泛且成本较低的诊断。
