PO32 - Investigation of Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G promoter polymorphism and other thrombophilia in patients with acute pulmonary embolism: A case-control study
resident doctor Institut of Cardiology chisinau, Chisinau, Moldova
Background: It is known that VTE is a polygenetic disease. PAI-1 is a serine protease with negative feedback to fibrinolysis, activating and inhibiting coagulation.
Aims: The aim of this study was to elucidate the clinical impact of the PAI-1 4G/5G polymorphism and other thrombophilia in Moldavian patients with acute PE.
Methods: A total of 58 subjects with acute PE and 60 HC, were recruited in Institute of Cardiology. The association of the PAI-1 4G/5G polymorphism with susceptibility, treatment efficacy and recurrence status and the association with other thrombophilia ( V Leiden, prothrombin G20210A, FGB-455 G/A and methylenetetrahydrofolate reductase C677T and 1298 A/C) were explored.
Results: The majority of patients with aPE (87.9%) present polymorphism in the PAI1 gene (29.3% (4G/4G) and 58.6% (5G/4G)). Eleven patients (19%) showed FV Leiden mutation and 19 patients (32,7%) showed mutation in FGB-455 G/A (2 homozygotes), MTHFR C677T gene mutation in 55,2%, while prothrombin 20210A gene mutation presented in 6 patients (10.3%). Nine patients (15,5% ) presented with chronic complication and 38.7% of patients showed recurrent PE. More than half of patients (51.9%) showed multiple gene mutation. Those patients showed a significant difference in the occurrence of other thromboses, in the recurrence of PE and residual complications. We found that the patients with the 5G/5G genotype were more likely to achieve complete recanalization compared to the 4G/4G genotype. In addition, individuals carrying the 5G/5G genotype were more likely to develop a recurrence-free status vs individuals with the 4G/4G or 4G/5G genotypes. PAI-1 antigen levels in the VTE group were significantly higher than those in the HC group.
Conclusion(s): The PAI-1 4G/5G polymorphism has potential value in assessing the prognosis of patients with VTE. Our study has laid the foundation for the application of PAI-1 4G/5G polymorphism in the personalized management and monitoring of patients with VTE..