Association between congenital thrombophilia and outcomes in pulmonary embolism patients

Abstract

The prevalence and distribution of congenital thrombophilia is still unclear in patients with pulmonary embolism (PE). We aimed to determine the prevalence and clinical characteristics of congenital thrombophilia in PE patients and their subsequent outcomes. A prospective observational study was conducted from May 2013 to June 2018. A total of 436 consecutive patients with PE were enrolled. All patients were tested for protein C, protein S, antithrombin III (ATIII), factor V Leiden, and prothrombin G20210A mutations. The median follow-up duration was ∼800 days (range, 11-1872 days). Congenital thrombophilia was diagnosed in 31 of 436 (7.1%) patients; 12 patients had protein C deficiency (2.8%), 13 had protein S deficiency (3.0%), 5 had ATIII deficiency (1.1%), and 1 had (0.2%) factor V Leiden. Age ≤50 years at the first episode (odds ratio [OR], 5.43; 95% confidence interval [CI], 2.35-13.52; P < .001) and male sex (OR, 2.67; 95% CI, 1.15-6.78; P = .03) were 2 independent predictors of congenital thrombophilia in PE patients. There was no statistically significant difference in the prevalence of congenital thrombophilia between PE patients with and without risk factors (P = .58). We also found no significant difference in the risk of having a composite outcome of death or recurrent venous thromboembolism between patients with and without congenital thrombophilia (hazard ratio, 0.18; 95% CI, 0.02-5.69; P = .08). These results suggest that age and male sex are independently associated with the occurrence of congenital thrombophilia in PE patients but that congenital thrombophilia is not associated with the risk of recurrence or death with anticoagulation therapy.

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 ].…”

Thrombophilia Impact on Treatment Decisions, Subsequent Venous or Arterial Thrombosis and Pregnancy-Related Morbidity: A Retrospective Single-Center Cohort Study

“…Although the thrombophilia risk for first VTE is well established [ 51 ], data on the recurrence of VTE are less clear. Multiple reports indicate no association of a positive thrombophilia result with the recurrence of VTE, mostly in low-risk hereditary thrombophilia [ 9 , 10 , 12 ], and heterogeneous results on recurrent pregnancy morbidity [ 52 , 53 , 54 ] with the exception of antiphospholipid antibody syndrome [ 55 ]. However, data on hereditary high-risk thrombophilia are limited and studies including the whole panel of thrombophilia are sparse.…”

“…Garcia-Horton et al showed the limited relevance of thrombophilia work-up in clinical decision-making after unprovoked VTE at a tertiary thrombosis center in Canada [ 7 ]. Given the growing body of evidence of the rather limited impact of thrombophilia upon the recurrence of VTE and overall mortality [ 8 , 9 , 10 , 11 , 12 ], current scientific data emphasize strict but variable selection criteria for thrombophilia testing [ 5 , 13 , 14 , 15 , 16 , 17 ].…”

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

“…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.…”