Topaloglu R, Akierli C, Bakkaloglu A, Aydintug O, Ozen S, Besbas N, Ozcelik T
Hacettepe University School of Medicine, Department of Pediatric Nephrology and Rheumatology, Ankara, Turkey.
Clin Rheumatol. 2001;20(4):259-61. doi: 10.1007/s100670170040.
The two most common hereditary risk factors for thrombosis are factor V Leiden mutation and a prothrombin gene mutation. There is indeed a thrombotic tendency in patients with systemic lupus erythematosis (SLE) and it is not always associated with antiphospholipid antibodies. We aimed to determine the relationship between both factor V Leiden and prothrombin gene mutations and SLE. Using polymerase chain reaction (PCR) the factor V Leiden and prothrombin gene mutations were evaluated in 55 patients (20 children and 35 adults) with SLE. Although seven patients were found to have factor V Leiden mutation in the heterozygous state, two had the heterozygous G-->A (20210) prothrombin gene mutation. Although one had these two mutations concurrently, these two patients did not have thrombosis. The factor V Leiden mutation frequency (12.7%) was higher than that of our general population (7.1%). On the other hand, seven of the patients with SLE had a thrombotic event. Although of these seven, four (57%) had factor V Leiden mutation, three (43%) had no mutation. Of 48 patients with no thrombotic history, only three had the factor V mutation (6.25%). The prevalence of the factor V Leiden mutation in SLE patients with and without thrombosis was significantly different by Fisher's exact test (p<0.05). The risk of venous thrombosis in patients with factor V Leiden increased threefold compared to that in those without factor V Leiden mutation (odds ratio 20.1; CI 2.99-133.6). Although factor V Leiden mutation seems to play a role in the development of venous thrombosis in SLE, the development of thrombosis in SLE is multifactorial.
血栓形成最常见的两种遗传风险因素是凝血因子V莱顿突变和凝血酶原基因突变。系统性红斑狼疮（SLE）患者确实存在血栓形成倾向，且并不总是与抗磷脂抗体相关。我们旨在确定凝血因子V莱顿突变和凝血酶原基因突变与SLE之间的关系。采用聚合酶链反应（PCR）对55例SLE患者（20例儿童和35例成人）的凝血因子V莱顿突变和凝血酶原基因突变进行评估。虽然发现7例患者处于杂合状态的凝血因子V莱顿突变，2例有杂合的G→A（20210）凝血酶原基因突变。虽然有1例同时存在这两种突变，但这2例患者均未发生血栓形成。凝血因子V莱顿突变频率（12.7%）高于我们的普通人群（7.1%）。另一方面，7例SLE患者发生了血栓事件。在这7例中，4例（57%）有凝血因子V莱顿突变，3例（43%）无突变。在48例无血栓形成病史的患者中，只有3例有凝血因子V突变（6.25%）。通过Fisher精确检验，有和无血栓形成的SLE患者中凝血因子V莱顿突变的患病率有显著差异（p<0.05）。与无凝血因子V莱顿突变的患者相比，有凝血因子V莱顿突变的患者发生静脉血栓形成的风险增加了两倍（优势比20.1；可信区间2.99 - 133.6）。虽然凝血因子V莱顿突变似乎在SLE患者静脉血栓形成的发生中起作用，但SLE患者血栓形成的发生是多因素的。
