ABSTRACT. Massive pulmonary embolism is a serious condition with mortality rates of 7-11% in the acute phase. In such cases, thrombolysis, delivered systemically or catheter-directed could be life saving. Episodes of pulmonary embolism and/or deep venous thrombosis in a young adult may raise the suspicion for an heritable thrombofilia. We present the case of a 37 year-old man with massive pulmonary embolism and deep venous thrombosis, treated by thrombolysis. The clinical evolution was complicated by recurrent pulmonary emboli requiring mechanical ventilation. He was successfully treated with prolonged streptokinase perfusion and long-term oral anticoagulation, being well at a three-year follow-up visit. We have found him to have a genetic anomaly, the MTHFR C 667 T mutation, consistent with ereditary thrombophilia. The particularities of this case consists of a young patient with recurrent deep venous thrombosis and massive pulmonary embolism, with confirmed thrombophilia, with recurrent embolism despite catheter-directed thrombolysis, slow clinical amelioration under prolonged streptokinase infusion, with no significant changes in thrombus burden at discharge, and a good evolution after chronic oral anticoagulation. pp. 166–172

Keywords: inherited thrombophilia; massive pulmonary embolism; thrombolysis