Attia F M, Mikhailidis D P, Reffat S A
Department of Clinical Pathology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
Open Cardiovasc Med J. 2009 Oct 21;3:147-51. doi: 10.2174/1874192400903010147.
The pathogenesis of deep venous thrombosis (DVT) involves an interaction between hereditary and acquired factors. Prothrombin gene mutation is one of the hereditary risk factors. We evaluated the frequency of the prothrombin gene mutation in patients with DVT and its relation to oral warfarin anticoagulant therapy response.
Prothrombin gene mutation was looked for in 40 DVT patients with poor response to warfarin. The results were compared with 40 DVT patients with a normal response to warfarin and 30 healthy blood donors. Blood samples were also assessed for protein C, protein S, anti-thrombin III and anticardiolipin antibodies (ACA) levels.
Prothrombin gene mutation was found in normal and poor DVT responders (6/40 and 13/40, respectively; p = NS) as well as in healthy controls (1/30). Patients with recurrent DVT or a family history of DVT were significantly (p<0.0001) more likely to have the prothrombin mutation than other DVT patients. Non prothrombin abnormalities (protein C, anti-thrombin III and ACA) were more common in poor responders than controls (p<0.0037) as were ACA (p<0.034).
Prothrombin gene mutation is present in several DVT patients, especially those with recurrent DVT or a family history of DVT. This mutation may contribute to a poor response to warfarin.
深静脉血栓形成(DVT)的发病机制涉及遗传因素与后天因素之间的相互作用。凝血酶原基因突变是遗传危险因素之一。我们评估了DVT患者中凝血酶原基因突变的频率及其与口服华法林抗凝治疗反应的关系。
在40例对华法林反应不佳的DVT患者中寻找凝血酶原基因突变。将结果与40例对华法林反应正常的DVT患者和30名健康献血者进行比较。还对血样进行了蛋白C、蛋白S、抗凝血酶III和抗心磷脂抗体(ACA)水平的评估。
在对华法林反应正常和不佳的DVT患者中均发现了凝血酶原基因突变(分别为6/40和13/40;p =无显著性差异),在健康对照者中也有发现(1/30)。与其他DVT患者相比,复发性DVT患者或有DVT家族史的患者发生凝血酶原突变的可能性显著更高(p<0.0001)。非凝血酶原异常(蛋白C、抗凝血酶III和ACA)在反应不佳者中比对照组更常见(p<0.0037),ACA也是如此(p<0.034)。
凝血酶原基因突变存在于一些DVT患者中,尤其是那些有复发性DVT或DVT家族史的患者。这种突变可能导致对华法林反应不佳。