Study of some genetic predisposition in pulmonary embolism

There is increasing recognition of genetic deficiencies underlying pulmonary embolism in some individuals, particularly those with early onset of disease, unusual sites of venous thrombosis and recurrent disease. The aim of this work is to study the role of mutation of factor V Leiden, prothrombin (factor II) G20210A and MTHFR C677T genes in patients with pulmonary embolism. Thirty-one patients with pulmonary embolism were investigated for gene mutation. The genotyping of factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T was performed via real time polymerase chain reaction, using the fluorescence melting curve detection analysis. Twenty-two patients out of 31 (71% of patients) showed factor V Leiden mutation and 15 patients out of 31 (48.4% of patients) showed mutation in MTHFR C677T gene, while prothrombin 20210A gene mutation presented in 5 patients (16.1% of patients). Nine patients (29% of patients) presented with recurrent DVT and 38.7% of patients showed recurrent pulmonary embolism. Also, 17 patients (54.8% of patients) presented with other thromboses in addition to pulmonary embolism. Thirteen patients (41.9%) showed double gene mutation and only one patient presented with mutations in the three studied genes. Those patients showed a significant difference in the occurrence of other thromboses in the body and significant increase in the recurrence of pulmonary embolism. Gene mutation especially factor V Leiden mutation is very important to be considered in young patients presented with venous thrombo-embolism, patients with thrombosis in unusual sites or patients with recurrent thrombo-embolic manifestations.