Diagnosis and treatment of venous thromboembolism during pregnancy relate to genetic polymorphism

Objectives Previous research had shown that age, a positive family history, comorbidities, major surgical operations, gestation, and use of several medications could increase the incidence of venous thromboembolism (VTE). With the development of medical and clinical individualized treatment, many people exposed to above risk factors did not develop VTE, suggested that genetic factors are also involved in the development of VTE. In this review, we aim to summarize VTE diagnosis and treatment in pregnancy women related to gene polymorphism. Methods A comprehensive electronic search using PubMed, MEDLINE, EMBASE and Web of Science was conducted to find relevant journal articles with key search terms including: “pregnancy OR pregnant,” “venous thromboembolism OR VTE,” “deep vein thrombosis OR DVT,” “pulmonary embolism OR PE,” and “genetic OR gene.” Prominent publications from establishment of database till present were analysed to achieve a deeper understanding of VTE during pregnancy relate to genetic polymorphism, and the information was then collated to form this review. Results The literature review revealed that inherited thrombophilia significantly associated with the development of VTE, especially the factor V Leiden (FVL) and prothrombin gene mutation (PGM). Furthermore, the role of methylenetetrahydrofolate reductase (MTHFR) gene mutation in the development of pregnancy-related VTE remains controversial, further study is required. In the present study, Marburg I polymorphism (G511 E), c.1538 G>A and c.1601 G>A in Factor V (FV), JAK2V617 F mutation were reported as an independent risk factor for VTE, there is no sufficient evidence to confirm the gene mutation is related to VTE during pregnancy, these factors appearing as another promising potential diagnostic marker of VTE during pregnancy. Besides, the dosages of heparin in the treatment of VTE during pregnancy need be adjusted according to gene polymorphism of these population, particularly FVL or PGM carriers, and this area is not studied deeply, it is worth further study. Conclusion Inherited thrombophilia significantly associated with the development of VTE, especially the FVL and PGM, however the relation between MTHFR gene mutation and pregnancy-related VTE remains controversial, further study is needed. In addition, the dosages of heparin in the treatment of VTE during pregnancy suggested to adjusted based on gene polymorphism in FVL and PGM, and establish better prediction models is a direction of future research.