Recurrent Thromboembolism due to Factor V Leiden Mutation: A Case Report

Abstract

The Factor V Leiden (FVL) mutation is the most prevalent genetic risk factor for VTE, with a prevalence of roughly 5% in the Caucasian population. Our patient presented with progressive right leg swelling, cough, and shortness of breath for 3 months. Investigations revealed elevated hemoglobin and positive D-dimers, and a CT scan confirmed a bilateral massive subacute pulmonary embolism. Based on the results of thrombophilia testing, our final diagnosis was Recurrent Thrombo-embolism due to Factor V Leiden Mutation. The patient received anticoagulant therapy and underwent multiple venesections, subsequently improving symptoms. Follow-up examinations showed cor pulmonale secondary to the chronic thromboembolic phenomenon. This case report highlights the significance of identifying and managing thrombophilic conditions like Factor V Leiden mutation in patients with recurrent venous Thromboembolism.