A Case of Acute Pulmonary Embolism Associated with Dysplasminogenemia
An 18-yr-old Korean male high school student studying abroad visited an emergency department on 28 April 2009 in the United States complaining of sudden onset chest pain. The chest pain developed one hour before his visit to the emergency room and was localized to the anterior chest area. His vital signs included a blood pressure of 130/85 mmHg, pulse rate of 96 beats/min, respiratory rate of 20 breaths/min, and body temperature of 36.8℃. His hemoglobin was 16.3 g/dL, WBC count was 6,450/µL (57.3% segmented neutrophils), and platelet count was 175,000/µL. His prothrombin time and activated partial thromboplastin time were 0.98 (INR) (reference range 0.9-1.1) and 32.6 sec (reference range 29.1-41.9 sec), respectively. Electrocardiography showed a normal sinus rhythm without abnormal ST segment change. Chest radiography revealed no abnormality. However, the D-dimer level was elevated to 2.56 µg/mL (reference range < 0.5 µg/mL).\nSuspicious of PE, the attending physician ordered a chest computed tomography (CT) scan and duplex ultrasonography of the lower extremity veins. The chest CT scan showed PE in left main pulmonary artery with parenchymal infarction and reactive effusion (). Deep vein thrombus was not visible on duplex ultrasound of the lower extremity veins. As he spent a considerable amount of time studying at a desk, the physician diagnosed him with PE associated with reduced mobility despite the lack of evidence for DVT. Anticoagulation therapy with warfarin was started. After six months of treatment, the anticoagulation treatment was discontinued as he had no risk factors for recurrent PE.\nTwo months later, the patient returned to Korea and visited the outpatient clinic of Samsung Medical Center on 2 December 2009. Considering the patient's young age, the physician evaluated other risk factors for venous thromboembolism including genetic risk factors for thrombophilia. Protein C and S activity were normal. Anti-phospholipid antibody was absent. However, plasminogen activity was decreased to 59% (reference range 75%-112%). Under suspicion for plasminogen deficiency, a plasminogen gene (PLG) mutation test was performed. The test revealed a PLG mutation of heterozygous Ala620Thr (). The patient's farther and mother were also screened for the PLG mutation and the mother was also positive for PLG mutation of Ala620Thr (). The patient was diagnosed with dysplasminogenemia with PLG mutation Ala620Thr heterozygosity causing venous thromboembolism. Life-long anticoagulation therapy was initiated, and the patient was followed up for 24 months without any clinical events before he returned to the U.S.