Factor V Leiden and prothrombin gene mutation
Factor V Leiden and prothrombin gene mutation
复制标题
DOI：
10.1097/01.blo.0000137238.02035.c2
复制
发表时间：
2004-08-01
影响因子：
4.2
通讯作者：
Benoni, G
中科院分区：
文献类型：
--
作者：
Björkman, A;Svensson, PJ;Benoni, G
本研究的目的是确定凝血因子V Leiden和凝血酶原20210 A基因突变是否是成人不同病因组股骨头坏死的危险因素，以及与普通人群相比，特发性股骨头坏死患者是否具有更高的血栓栓塞事件发生率。我们调查了63例成人非创伤性股骨头坏死的病因，如皮质类固醇药物和酗酒，以及凝血因子V Leiden和凝血酶原20210 A基因突变的发生。在35例患者中，该疾病被认为是特发性的，其中10例（29%）有凝血因子V Leiden或凝血酶原20210 A基因突变或两者兼而有之。特发性骨坏死患者中凝血因子V或凝血酶原20210 A基因突变的频率显著高于健康对照受试者（比值比，2.7; 95%置信区间范围，1.2-5.8）和皮质类固醇药物或酒精滥用引起的骨坏死患者（比值比，10.8; 95%置信区间范围，1.4-84）。36%的基因突变患者发生过血栓栓塞事件，而没有基因突变的患者发生血栓栓塞事件的比例为8%。血栓栓塞事件在特发性骨坏死患者（17%）中比一般人群（4%）和皮质类固醇药物或酒精滥用引起的骨坏死患者（7%）更常见。
The purpose of the current study was to determine whether factor V Leiden and the prothrombin 20210A gene mutation are risk factors for osteonecrosis of the femoral head in different etiologic groups of osteonecrosis in adults and whether patients with idiopathic osteonecrosis of the femoral head have a higher frequency of thromboembolic events compared with the general population. We investigated 63 adult patients with nontraumatic osteonecrosis of the femoral head for etiologic factors, such as corticosteroid medication and alcohol abuse, and the occurrence of factor V Leiden and the prothrombin 20210A gene mutation. In 35 patients, the disease was considered idiopathic and 10 of these patients (29%) had factor V Leiden or the prothrombin 20210A gene mutation or both. Mutations in factor V or the prothrombin 20210A gene were significantly more frequent in patients with idiopathic osteonecrosis than in a population of healthy control subjects (odds ratio, 2.7; 95% confidence interval range, 1.2-5.8) and in patients with osteonecrosis caused by corticosteroid medication or alcohol abuse (odds ratio, 10.8; 95% confidence interval range, 1.4-84). 36% of patients with a gene mutation had had a thromboembolic event compared with 8% of patients without a gene mutation. Thromboembolic events were more common among patients with idiopathic osteonecrosis (17%) compared with the general population (4%) and with patients with osteonecrosis caused by corticosteroid medication or alcohol abuse (7%).