<p>Prevalence and Outcomes of Thrombophilia in Patients with Acute Pulmonary Embolism</p>

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.

Pulmonary Embolism in Women: A Systematic Review of the Current Literature

“…Other commonly associated risk factors include a history of smoking, prior VTE, cancer [ 15 , 22 ], coronary artery disease and myocardial infarction [ 17 , 20 , 22 ], renal failure [ 15 ], and severe liver disease, all of which were less prevalent in women with PE compared to men [ 20 ]. Additionally, male sex has been found to be a significant independent predictor of congenital thrombophilia in patients with PE [ 40 ], and this was consistent across all groups of hereditary thrombotic disorders, including protein C deficiency, protein S deficiency, antithrombin 3 deficiency, abnormal lupus anticoagulant, antiphospholipid syndrome, factor V Leiden, and hyperhomocysteinemia [ 41 ].…”

Homozygous factor V leiden mutation: Rare etiology of pulmonary embolism

“…The association between pulmonary embolism and thrombophilia has been described in numerous studies, including a study performed at the Department of Vascular Surgery a (HGH), Qatar in this study 227 consecutive patients with a radiologically confirmed diagnosis of PE were included. Among them, 108 (47.6%) patients had a hypercoagulable state with at least one positive marker for thrombophilia [ 8 ]. Many authors have described that Pulmonary embolism occurs 10 years earlier in subjects with thrombophilia than in those without thrombophilia [ 8 ], and that The prevalence of symptomatic venous thromboembolic disease is higher in carriers of a homozygous factor V Leiden mutation 68% (n = 75) compared with 54% (n = 145) in carriers of a heterozygous factor V Leiden mutation [ 9 ].It should be noted that No study has been able to demonstrate the imputability between the factor V Leiden mutation and the severity of pulmonary embolism, but rather it is the association between several risk factors.…”

“…Among them, 108 (47.6%) patients had a hypercoagulable state with at least one positive marker for thrombophilia [ 8 ]. Many authors have described that Pulmonary embolism occurs 10 years earlier in subjects with thrombophilia than in those without thrombophilia [ 8 ], and that The prevalence of symptomatic venous thromboembolic disease is higher in carriers of a homozygous factor V Leiden mutation 68% (n = 75) compared with 54% (n = 145) in carriers of a heterozygous factor V Leiden mutation [ 9 ].It should be noted that No study has been able to demonstrate the imputability between the factor V Leiden mutation and the severity of pulmonary embolism, but rather it is the association between several risk factors. Anticoagulation is the basic treatment for venous thromboembolic disease.…”

Osteonecrosis of the Jaws in Patients with Hereditary Thrombophilia/Hypofibrinolysis—From Pathophysiology to Therapeutic Implications

“…Studies aiming at the identification of a prothrombotic substrate in patients with venous thromboembolism (VTE) showed a strong association between coagulation abnormalities and VTE occurrence. In 35–61% of VTE patients, a hereditary thrombophilic defect can be detected [ 84 , 85 , 86 ]. Moreover, the younger the patients are at their first VTE episode, the more likely they are to have a coagulation abnormality.…”

“…Moreover, the younger the patients are at their first VTE episode, the more likely they are to have a coagulation abnormality. A prior history of VTE is also an indicator for the presence of a thrombophilic substrate [ 85 , 87 ]. While inherited thrombophilia is a well-established predisposing factor for VTE, its role in arterial thrombosis has remained a long-lasting uncertainty.…”