Abstract

Abstract Pulmonary embolism (PE) is the most frequently missed diagnosis in the urgent clinical department with serious consequences. Patients with unprovoked PE have increased risk of recurrent PE. Approximately 5 to 8% of PE patients have inherited thrombophilias. A solated homocystinemia is a rare cause of unprovoked acute pulmonary embolism. Timely diagnosis and proper treatment can prevent complications, costs and mortality and provide patient better quality of life. We are presenting a 42-year-old woman was admitted to our emergency department with the first episode of severe dyspnea and chest pain. She had no history of previous cardiovascular or respiratory disease and no history of previous pulmonary embolism (PE) or deep vein thrombosis (DVT). Urgent echocardiography showed indirect signs of pulmonary embolism which was confirmed by the pulmonary artery CT angiography performed one day after the patient’s admission. After two days of heparin infusion, she developed a hemodynamic instability with cardiogenic shock and was treated successfully with fibrinolysis. After the clinical stabilization, she was put on the rivaroxaban therapy, which was recommended for additional six months. The thrombophilia profile was done two weeks after stopping the therapy with rivaroxaban. The thrombophilia panel came back positive for high levels of homocysteine (67 μmol/L), with other thrombophilia results within normal limits. The patient was stable during the follow-up period. Pulmonary embolism should be always suspected in younger patients with acute severe dyspnea even without provocable risk factors. High suspicion level and fast diagnosis are lifesaving. In younger patients presented with unprovoked pulmonary embolism, clinicians should consider inherited prothrombotic factors and homocystinemia as a potential cause. Rescue fibrinolysis is a lifesaving therapy in hemodynamic worsening in intermediate high-risk PE patients. A longer anticoagulation therapy should be considered in these cases with novel oral anticoagulants that are recommended as safer and superior therapy.

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