A Unique Case of Popliteal Artery Thrombosis in Isolated Prothrombin Gene Mutation

A prothrombin gene mutation (PTGM) is the second common cause of inherited thrombophilia after factor V Leiden. Hypercoagulable conditions have traditionally been reported to cause venous thrombosis, while arterial thrombosis is a rare occurrence. Studies have reported cases of preexisting hypercoagulable conditions associated with PTGM presenting as thromboembolism; however, none have been recorded with isolated PTGM. A 55-year-old patient was diagnosed to have unilateral popliteal artery thrombosis. He had a past history of provoked deep vein thrombosis. Investigations confirmed PTGM, and no other associated hypercoagulable conditions or peripheral vascular disease were identified. Embolic sources from the heart, aorta, and an atrial septal defect were ruled out. The patient responded to heparin infusion and catheter-directed thrombolysis using TPA. The case is being reported for its uniqueness since this is the first documented case of popliteal artery thrombosis in a patient with isolated PTGM.