Prevalence and Outcomes of Thrombophilia in Patients with Acute Pulmonary Embolism

BACKGROUND: We aimed to study the prevalence and outcomes of thrombophilia in acute pulmonary embolism. METHODS: A retrospective observational study was conducted to include patients with a radiologically confirmed diagnosis of PE screened for thrombophilia from May 2011 to February 2015. Data included patients’ demographics; clinical presentation, risk factors, laboratory investigations, management, and outcome were analyzed and compared in patients with and without thrombophilia. RESULTS: A total of 227 cases of PE were included in the study, of which 108 (47.6%) had thrombophilia. The most frequent coagulopathic abnormality included deficiency of protein S, protein C, and antithrombin III and hyperhomocysteinemia. Only seven out of 79 patients were found to have factor V Leiden. PE patients diagnosed with thrombophilia were 10 years younger in age and peaked in the age range 30–39 years. Prior history of DVT (p=0.001) and PE (p=0.001) were the main significant risk factors in the thrombophilia group. The frequency of different risk categories of clinical probability scores did not differ significantly among those with and without thrombophilia. Pulmonary hypertension was a common complication in the thrombophilia group (P=0.009). Medications used included warfarin (74.7%), enoxaparin (73.9%), and heparin (55.4%). The overall mortality rate was 8.4%, and was non-significantly higher in the non-thrombophilia group. CONCLUSION: Deficiencies of protein S, protein C, and antithrombin III are the leading causes of thrombophilic defects. Patients with hereditary thrombophilia are at increased risk of acute PE, particularly among young individuals. Therefore, early detection of thrombophilic defects together with other unprovoked risk factors could reduce the risk of recurrent VTE.