Anticoagulation Therapy in a Patient With Heterozygous Factor V Leiden and Coexisting Homozygous Prothrombin Gene Mutations

Abstract

Coexistent heterozygous factor V Leiden and homozygous prothrombin G20210A gene mutations is a rare and potentially life-threatening occurrence. This inherited thrombophilia often presents as non-specific venous thromboemboli and can mimic a variety of emergent medical conditions. The pathophysiology of the disease has been well documented; however, long-term treatment efficacy remains poorly understood. We report the case of a 25-year-old male presenting with acute chest pain. A comprehensive workup revealed bilateral pulmonary emboli arising in part from concomitant heterozygous factor V Leiden and homozygous prothrombin G20210A gene mutations. Immediate and continuous treatment with anticoagulants enoxaparin and apixaban significantly reduced the patient's symptoms and D-dimer within one week. This case provides insight into an effective treatment regimen for this rare and inherited thrombophilia. Copyright © 2020, Costa et al.