Samama M M, Simon D, Horellou M H, Trossaërt M, Elalamy I, Conard J
Service d'Hématologie Biologique, Hôtel-Dieu, Paris, France.
Haemostasis. 1996 Oct;26 Suppl 4:315-30. doi: 10.1159/000217312.
The diagnostic strategies and clinical characteristics of thrombophilia associated with heterozygous or homozygous factor V Leiden mutation have been determined according to the literature and to a personal study in 51 families. Factor V mutation was present in the 51 propositi and in 84 out of 125 family members (81 heterozygous, 3 homozygous). Venous thrombosis was observed in all the propositi, in 17 of the 84 family members with the mutation and in 6 of the 41 with a normal APC resistance test and no mutation. An associated protein C or protein S deficiency was present in 5 families (10%). The most frequent clinical manifestations were superficial or deep vein thrombosis and/or pulmonary embolism, but also thrombosis at an unusual site (cerebral, mesenteric or central retinal vein). A causal relationship is frequently difficult to demonstrate. A precipitating factor was observed in 84% of cases and a recurrent thrombotic episode occurred in 50% of propositi. The risk of thrombosis associated with pregnancy was high in the post-partum period, especially in homozygous women. In the 28 homozygous subjects, markers of coagulation activation were frequently elevated in untreated patients. Finally, the efficacy of anticoagulant treatment is suggested but the long period often observed between treatment interruption and a recurrence does not militate in favour of long term treatment.
根据文献及对51个家庭的个人研究，已确定了与杂合或纯合因子V莱顿突变相关的血栓形成倾向的诊断策略和临床特征。51名先证者以及125名家庭成员中的84人（81人杂合，3人纯合）存在因子V突变。在所有先证者、84名携带突变的家庭成员中的17人以及41名活化部分凝血活酶时间（APTT）试验正常且无突变的成员中的6人身上观察到静脉血栓形成。5个家庭（10%）存在相关的蛋白C或蛋白S缺乏。最常见的临床表现是浅表或深静脉血栓形成和/或肺栓塞，但也有不寻常部位（脑、肠系膜或视网膜中央静脉）的血栓形成。因果关系往往难以证实。84%的病例观察到促发因素，50%的先证者出现复发性血栓事件。产后与妊娠相关的血栓形成风险很高，尤其是在纯合子女性中。在28名纯合子受试者中，未经治疗的患者凝血激活标志物经常升高。最后，抗凝治疗的有效性得到提示，但治疗中断与复发之间经常观察到的较长时间不利于长期治疗。
