PB1470 - Prognostic value of determination of genes mutations in patients with pulmonary thrombembolism – Multicentre Cohort Study

Background: Pulmonary thrombembolism is a relatively common clinical entity accompanied with a high mortality. Some of the patients with thrombotic conditions with similar demographic, clinical and laboratory characteristics have different faith. Genetic factors are thought to be one of these causes.

Aims: The aim of this cohort multicentre study is to determine the role of some genes in susceptibility and prediction of faith of patients with pulmonary thrombembolism (PE).

Methods: 120 patients with diagnosed PE were analyzed for factor V rs6025, factor II rs1799963 and MTHFR rs1801133 genotypic and allelic frequencies. Patients were followed up for death and recurrent events for a period of 6 months. Multiple statistical analyses were applied to determine the association of gene variants with selected parameters in these pts when D-dimmer, Troponin, Blood pH and sO2 (arterial blood saturation of oxygen), platelets count, BMI, Wells score, blood pressure and age were put in a model.

Results: The logistic regression model had a predictive value for factor V rs6025 (AUC=0.704, p=0.002) in a term of recurrent events of PE. Troponin value (AUC=0.823, p=0.05) was most sensitive in a prediction of death of these pts. MTHFR rs1801133 genotypic polymorphism was related to hypokapnia in these pts (p=0.049).

Conclusion(s): Our results suggest the possible applicability of those genes variants in the prediction of PE risk. The established genetic association of the factors V and MTHFR polymorphism with susceptibility to PE, suggest the necessity for it’s analyze in pts with PE, especially unprovoked one.