Deep venous thromboembolism after a trauma in a football player double heterozygous for factor V Leiden and prothrombin G20210A mutation: The role of genetic testing in sport*

Traumatic vascular injuries to the lower limb are frequent in athletes, particularly in sports characterized by high-speed collisions. However, the diagnosis is not always straightforward, for the lack of clearly visible abnormalities without provocative testing or appropriate imaging. The failure of an early diagnosis can lead to devastating consequences. In these subjects, it may be useful to investigate the personal susceptibility to thrombotic events such as the presence of a hereditary hypercoagulable state. We experienced a case of a soccer player with progressive swelling and severe pain of the calf after a trauma during a football match 3 days previously, who came to our hospital for suspected deep vein thrombosis, confirmed by echo-Doppler ultrasound. A thrombophilia screening detected a double heterozygosity for factor V Leiden and prothrombin G20210A mutation in the presence of a strong family history for thromboembolism. Immediate treatment with elastic stocking compression and enoxaparin was started. The patient was discharged on warfarin therapy maintained for six months, with the warning to avoid trauma activities during anticoagulation. Thrombotic genetic testing in athletes who experience episodes of deep vein thrombosis might offer important opportunities for patient management, such as prolonged anticoagulant therapy or avoidance of risk factors such as trauma-related sports.