Selective Thrombophilia Testing in Venous Thromboembolism
10.37923/phle.2025.23.2.53
- Author:
Jiwon SHIN
1
;
Hyejee LEE
;
Hyangkyoung KIM
Author Information
1. Ewha Womans University College of Medicine, Ewha Womans University Medical Center, Seoul, Korea
- Publication Type:Review Article
- From:
Annals of phlebology
2025;23(2):53-62
- CountryRepublic of Korea
- Language:English
-
Abstract:
Venous thromboembolism (VTE), encompassing deep vein thrombosis and pulmonary embolism, remains a major cause of morbidity and mortality. In carefully selected patients, evaluation for inherited or acquired thrombophilia can offer valuable insights for individualized management and recurrence prevention. Current international guidelines recommend targeted thrombophilia testing only in cases of unprovoked or recurrent VTE, early-onset disease, strong family history, or thrombosis at unusual sites.Clinically relevant tests include Factor V Leiden, Prothrombin G20210A, and deficiencies of antithrombin, protein C, and protein S, as well as antiphospholipid antibodies. The prevalence and clinical impact of inherited thrombophilias differ across populations;mutations such as Factor V Leiden and Prothrombin G20210A are rare in East Asians, whereas natural anticoagulant deficiencies and antiphospholipid syndrome are more significant. Thrombophilia testing should therefore be individualized and guided by clinical context, ensuring that results meaningfully influence management decisions.Recognition of ethnic variation and adherence to evidence-based diagnostic strategies can enhance precision in the prevention and treatment of VTE.
