Sahai Akshat, Sharma Vaibhav, Mishra Prapti, Siddanoor Avinash, Bhatia Abhishek, Pande Deepak Gargi
BLK-MAX Superspeciality Hospital, New Delhi, India.
Medstar Washington Hospital Center, Washington, DC, USA.
Methodist Debakey Cardiovasc J. 2025 May 30;21(1):57-62. doi: 10.14797/mdcvj.1565. eCollection 2025.
Methylenetetrahydrofolate reductase gene () mutations can lead to hyperhomocysteinemia, a known risk factor for venous thromboembolism. In some studies, the A1298C and C677T polymorphisms of the gene have been linked to thrombosis, though their clinical significance remains debated. This case presents a detailed analysis of two premenopausal females who presented with pulmonary embolism and were subsequently diagnosed with the A1298C mutation, indicating a potential relation between the A1298C mutation of the gene and the subsequent triggering events of thrombotic manifestations associated with raised levels of homocysteine. The varying clinical presentations and biochemical profiles underscore the complex relationship between genotype and phenotype in -associated thrombophilias.
亚甲基四氢叶酸还原酶基因（）突变可导致高同型半胱氨酸血症，这是静脉血栓栓塞的一个已知危险因素。在一些研究中，该基因的A1298C和C677T多态性与血栓形成有关，尽管它们的临床意义仍存在争议。本病例详细分析了两名绝经前女性，她们出现肺栓塞，随后被诊断出存在A1298C突变，这表明该基因的A1298C突变与随后因同型半胱氨酸水平升高而引发的血栓形成表现之间可能存在关联。不同的临床表现和生化特征突显了与该基因相关的血栓形成倾向中基因型和表型之间的复杂关系。
