Dahlbäck B
Department of Clinical Chemistry, University of Lund, Malmö, Sweden.
Thromb Haemost. 1997 Jul;78(1):483-8.
In 1993, inherited resistance to activated protein C (APC) was described as a novel risk factor for venous thrombosis. APC-resistance is present in 20-60% of venous thrombosis cases. It is caused by a single point mutation in the factor V gene which substitutes arginine (R) at position 506 with a glutamine (Q). The mutation is common in Caucasians with up to 15% prevalence in the population, whereas it is not found among other human races. Mutated factor V (FVR506Q, FV:Q506 or FV Leiden) is partially resistant to APC which results in a hypercoagulable state conferring a life-long increased risk of thrombosis. Individuals having FV:Q506 combined with other anticoagulant defects have a high risk of thrombosis, and it is now generally accepted that severe thrombophilia is a multigenetic disease. Easy functional and genetic tests for inherited APC-resistance will profoundly influence the development of prophylactic regimens and hopefully result in a decreased incidence of thrombosis.
1993年，遗传性活化蛋白C（APC）抵抗被描述为静脉血栓形成的一种新的危险因素。在20%至60%的静脉血栓形成病例中存在APC抵抗。它是由因子V基因中的一个单点突变引起的，该突变将第506位的精氨酸（R）替换为谷氨酰胺（Q）。这种突变在白种人中很常见，人群患病率高达15%，而在其他种族中未发现。突变的因子V（FVR506Q、FV:Q506或FV莱顿）对APC有部分抵抗，这导致高凝状态，使血栓形成风险终身增加。具有FV:Q506并伴有其他抗凝缺陷的个体血栓形成风险很高，现在人们普遍认为严重的血栓形成倾向是一种多基因疾病。针对遗传性APC抵抗的简便功能和基因检测将深刻影响预防方案的制定，并有望降低血栓形成的发生率。
