Ricart José Ma, Vayá Amparo, Todolí José, Calvo Javier, Villa Piedad, Estellés Amparo, España Francisco, Santaolaria Marisa, Corella Dolores, Aznar Justo
Dermatology Service, La Fe University Hospital, Valencia, Spain.
Thromb Haemost. 2006 Apr;95(4):618-24.
Behçet's disease (BD) is a chronic inflammatory disorder in which thrombosis occurs in about 30% of patients. The prothrombotic mechanisms are unknown. Thrombophilic defects and hyperhomocysteinaemia may be involved in the pathogenesis of thrombotic events, although results have been controversial. Moreover, no information is available on this issue for eastern Spain. We studied the prevalence of inherited and acquired thrombophilic risk factors in 79 patients with BD (43 men, 36 women) who had (n = 23) or did not have (n = 56) thrombosis, and in 84 healthy control subjects (42 men, 42 women). Risk factors examined were antithrombin, protein C and protein S levels, factor V Leiden, the prothrombin G20210A mutation, the methylenetetrahydrofolate reductase C677T polymorphism, and acquired thrombophilic risk factors, including anticardiolipin antibodies, lupus anticoagulant, and serum homocysteine levels. There were no differences between patients and controls in any of the parameters studied. When we studied BD patients with and without thrombotic events, the only thrombophilic defect that differed was the prothrombin G20210A mutation: Three out of 23 patients with thrombosis were carriers, compared with none of 56 patients without thrombosis (p = 0.022). Two of the three carriers developed catastrophic or recurrent thrombotic episodes; one was a homozygous carrier of the G20210A prothrombin mutation and the other was doubly heterozygous for the G20210A prothrombin mutation and factor V Leiden. A meta-analysis demonstrated an association of factor V Leiden and prothrombin mutation with thrombosis in BD. When studies from Turkey were excluded from the meta-analysis, only the prothrombin G20210A mutation was associated with thrombosis.
白塞病（BD）是一种慢性炎症性疾病，约30%的患者会发生血栓形成。血栓形成的机制尚不清楚。尽管研究结果存在争议，但血栓形成倾向缺陷和高同型半胱氨酸血症可能参与血栓形成事件的发病机制。此外，西班牙东部地区在这个问题上尚无相关信息。我们研究了79例BD患者（43例男性，36例女性）中遗传性和获得性血栓形成倾向危险因素的患病率，这些患者有（n = 23）或没有（n = 56）血栓形成，并与84名健康对照者（42例男性，42例女性）进行了比较。检测的危险因素包括抗凝血酶、蛋白C和蛋白S水平、因子V莱顿突变、凝血酶原G20210A突变、亚甲基四氢叶酸还原酶C677T多态性以及获得性血栓形成倾向危险因素，包括抗心磷脂抗体、狼疮抗凝物和血清同型半胱氨酸水平。在研究的任何参数中，患者和对照者之间均无差异。当我们研究有或没有血栓形成事件的BD患者时，唯一不同的血栓形成倾向缺陷是凝血酶原G20210A突变：23例有血栓形成的患者中有3例是携带者，而56例无血栓形成的患者中无一例是携带者（p = 0.022）。三名携带者中有两名发生了灾难性或复发性血栓形成事件；一名是G20210A凝血酶原突变的纯合子携带者，另一名是G20210A凝血酶原突变和因子V莱顿的双重杂合子。一项荟萃分析表明，因子V莱顿突变和凝血酶原突变与BD中的血栓形成有关。当土耳其的研究从荟萃分析中排除时，只有凝血酶原G20210A突变与血栓形成有关。
