Conard J, Horellou M H, Samama M M
Laboratoire Central d'Hématologie, Hôtel-Dieu, Paris.
Ric Clin Lab. 1989 Oct-Dec;19(4):391-402. doi: 10.1007/BF02871830.
In order to determine a scheme for the screening of inherited thrombotic disorders, abnormalities considered as predisposing to thrombosis have been reviewed. Owing to the low prevalence of biological alterations, a selection of patients is required: documented venous thromboses, possibly at unusual sites (mesenteric vein, portal, cerebral veins), occurring before the age of 40 in patients with a positive family history of thromboses are relatively frequently associated with coagulation abnormalities. In addition, patients with skin necrosis at the initiation of oral anticoagulants, or with repeated superficial vein thrombosis or unexplained arterial occlusions at a young age might be included for screening. Tests have also to be selected. Some abnormalities, such as congenital deficiencies in antithrombin III, protein C and protein S, are recognized risk factors and have to be searched. Some others cannot be at present considered as definite risk factors (e.g., dysfibrinogenemias or deficiencies in factor XII), but their detection is easy by routine tests: prothrombin time, fibrinogen assay. Other abnormalities are recognized risk factors (or not) and need specific uncommon tests (e.g., study of fibrinolysis). Each time a biological abnormality is found, it is important to verify it is isolated since combined deficiencies have been observed and we should be able to answer the question whether the abnormality is the cause or the consequence of thrombosis, or a coincidence. Finally, in our experience, even in well selected patients, a coagulation disorder is detected in less than 30% of patients, so that new tests are needed to improve our knowledge in this field.
为确定遗传性血栓形成疾病的筛查方案，对被视为易患血栓形成的异常情况进行了综述。由于生物学改变的发生率较低，需要对患者进行选择：有记录的静脉血栓形成，可能发生在不寻常部位（肠系膜静脉、门静脉、脑静脉），在有血栓形成家族史的患者中，40岁之前发生的情况相对频繁地与凝血异常相关。此外，口服抗凝剂起始时出现皮肤坏死的患者，或年轻时反复出现浅静脉血栓形成或不明原因动脉闭塞的患者，可能被纳入筛查。还必须选择检测项目。一些异常情况，如抗凝血酶III、蛋白C和蛋白S的先天性缺乏，是公认的危险因素，必须进行检查。其他一些情况目前不能被视为明确的危险因素（如异常纤维蛋白原血症或因子XII缺乏），但通过常规检测（凝血酶原时间、纤维蛋白原测定）很容易检测到。其他异常情况被认为是危险因素（或不是），需要特定的不常见检测（如纤维蛋白溶解研究）。每次发现生物学异常时，重要的是要确认它是孤立存在的，因为已经观察到合并缺乏的情况，而且我们应该能够回答该异常是血栓形成的原因还是结果，或者只是一种巧合。最后，根据我们的经验，即使在精心挑选的患者中，不到30%的患者能检测到凝血障碍，因此需要新的检测方法来提高我们在这一领域的认识。
