Department of Legal Medicine, Department of Neonatology, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, Romania;
Rom J Morphol Embryol. 2021 Jul-Sep;62(3):829-834. doi: 10.47162/RJME.62.3.21.
Thrombophilia is a disorder that makes patients susceptible to intravascular thrombosis that may increase the risk of developing a pregnancy on a known pathology. The female patient diagnosed with hypoplastic uterus and hereditary thrombophilia had a favorable evolution under properly administered anticoagulant treatment. The homozygous status for the C677T mutation may lead to an increase in plasma homocysteine levels, especially in pregnant women, being an associated risk factor for thrombosis. The risk of developing intravascular thrombosis requires primary prevention measures by adding D-dimers in the early diagnostic algorithm, being the most accurate marker of hypercoagulability and endogenous fibrinolysis. The corroboration of the hypercoagulability status with the results of genotyping, the frequencies of the minor/major alleles studied, single mononucleotide polymorphisms (SNPs) and the establishment of preventive therapy, aims to prevent intravascular thrombosis and thromboembolic phenomena.
血栓形成倾向是一种疾病,使患者容易发生可能增加已知病理学中发生妊娠风险的血管内血栓形成。诊断为子宫发育不全和遗传性血栓形成倾向的女性患者在适当的抗凝治疗下有良好的预后。C677T 突变的纯合状态可能导致血浆同型半胱氨酸水平升高,尤其是在孕妇中,是血栓形成的相关危险因素。发生血管内血栓形成的风险需要通过在早期诊断算法中添加 D-二聚体来进行一级预防措施,D-二聚体是高凝状态和内源性纤维蛋白溶解的最准确标志物。通过基因分型结果、所研究的次要/主要等位基因的频率、单核苷酸多态性(SNP)和预防性治疗的建立来证实高凝状态,旨在预防血管内血栓形成和血栓栓塞现象。