Is It in Our Genes That We're Going to Have Pulmonary Embolism

Abstract

Pulmonary thromboembolism is a disease with high mortality and morbidity, which can be recurrent, difficult to diagnose, yet preventable and treatable. In this study, our aim was to evaluate comorbidities, risk factors, laboratory results, and clinical scoring in patients diagnosed with pulmonary embolism. Our primary goal was to detect genetic mutations in cases of pulmonary embolism with acquired risk factors. Our study is a prospective study that includes clinical information, laboratory tests, Wells scoring, admission, and the prospective history of 60 patients with no previous history of venous thromboembolism (VTE) and no history of anticoagulation use. These patients were admitted to the chest diseases outpatient clinic, emergency department, or hospitalized for another reason and diagnosed with pulmonary thromboembolism. The mean age of the patients was 59.9 ± 18.7 years. The most common presenting complaints were shortness of b reath and sharp chest pain. Nearly half of the patients had at least one comorbid disease. There was at least one genetic/congenital risk factor in all cases, and at least two risk factors were present in more than half of the cases. The most common mutations were plasminogen activator inhibitor type 1 (PAI -1) and Methylenetetrahydrofolate Reductase (MTHFR) heterozygote mutations. Pulmonary embolism continues to be a more prevalent disease with increasing age and associated risk factors. Since there is at least one acquired risk factor in all of our cases, we believe that almost every patient may have an acquired risk factor if the history is thoroughly investigated. We also believe that genetic or thrombophilic conditions may be detected in almost all cases diagnosed with pulmonary embolism. It has been concluded that immobilization and obesity are the most common preventable risk factors associated with VTE.