Flores-Alatriste José Daniel, Jacobo-Nájera Sara, Segura-Rodríguez Rubén, Stern-Colin y Nunes Jorge Jaroslav
Ginecol Obstet Mex. 2014 Jun;82(6):383-8.
Inherited thrombophilia is a genetic tendency to suffer thrombotic events clinically evident at an early age, with frequent re- currences without apparent cause. In recent years thrombophilia has earned a place as a primary risk factor for abnormal pregnancy.
To determine the incidence of hereditary thrombophilia in patients with recurrent pregnancy loss.
A retrospective, linear and descriptive study was conducted at Clinic of Reproduction IMMUNOREP with patients treated from January 2007 to December 2012. The study included patients with a diagnosis of recurrent pregnancy loss and inherited thrombophilia with laboratory studies of thrombophilia including different genes: G1619A (factor V Leiden), R2 H1299R (factor V polymorphism), C677T (methylenetetrahydrofolate reductase enzyme polymorphism), A1298C (methylenetetrahydrofolate reductase enzyme mutation), G20210A (mutation of the prothrombin gene), V34L (factor XIII polymorphism), 455G > A (fibrinogen gene mutation), 4G/5G (plasminogen activator inhibitor) and a/b L33P (ribosomal polymorphism of methylenetetrahydrofolate reductase enzyme).
211 files were reviewed and only 10.4% of patients were negative for hereditary thrombophilia, a percentage that is consistent with the results of different series of studies in patients with unexplained recurrent pregnancy loss. The most prevalent genetic condition was 4G/5G (plasminogen activator inhibitor, 85.5%) in homozygous and heterozygous with 63.4% (120) and 22.4% (42), respectively.
It was demonstrated the direct relationship between thrombophilia and recurrent pregnancy loss depending on whether the patient is heterozygous or homozygous for the disease.
遗传性血栓形成倾向是一种在早年临床上明显出现血栓形成事件的遗传倾向,经常无明显原因复发。近年来,血栓形成倾向已成为异常妊娠的主要危险因素。
确定复发性流产患者遗传性血栓形成倾向的发生率。
在免疫生殖诊所对2007年1月至2012年12月治疗的患者进行回顾性、线性和描述性研究。该研究纳入了诊断为复发性流产和遗传性血栓形成倾向的患者,并对包括不同基因的血栓形成倾向进行实验室研究:G1619A(凝血因子V莱顿突变)、R2H1299R(凝血因子V多态性)、C677T(亚甲基四氢叶酸还原酶多态性)、A1298C(亚甲基四氢叶酸还原酶突变)、G20210A(凝血酶原基因突变)、V34L(凝血因子XIII多态性)、455G>A(纤维蛋白原基因突变)、4G/5G(纤溶酶原激活物抑制剂)和a/b L33P(亚甲基四氢叶酸还原酶核糖体多态性)。
回顾了211份病历,只有10.4%的患者遗传性血栓形成倾向为阴性,这一百分比与不明原因复发性流产患者的不同系列研究结果一致。最常见的遗传状况是4G/5G(纤溶酶原激活物抑制剂),纯合子和杂合子分别占63.4%(120例)和22.4%(42例),占85.5%。
根据患者是疾病的杂合子还是纯合子,证实了血栓形成倾向与复发性流产之间的直接关系。