Prevalence and Outcomes of Thrombophilia in Patients with Acute Pulmonary Embolism

Abstract

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.

Keywords:

• pulmonary embolism
• thrombophilia
• risk factors
• thromboembolism
• outcome

Ethics Approval and Consent to Participate

This observational study has received expedited review and was approved by the Institutional Review Board (IRB#15139/15) at the Medical Research Center, Hamad Medical Corporation, Doha, Qatar. A waiver of consent was granted as there was no direct contact with subjects and data were anonymously and confidentially retrieved with compliance with the Declaration of Helsinki.

Consent for Publication

Approved by the Institutional Review Board (IRB#15139/15).

Data Sharing Statement

Data will be available upon request after approval and signing agreement with the medical research center.

Acknowledgments

We would like to thank all of the staff of the radiology department at Hamad General Hospital, for their contribution and support.

Author Contributions

MMO, AE, MA, and HA: all authors contributed to data analysis, drafting or revising the article, gave final approval of the version to be published, and agree to be accountable for all aspects of the work.

Disclosure

The authors report no conflicts of interest in this work.