- 期刊
Hereditary Coagulopathy Antithrombin III Deficiency Complicated with Pulmonary Embolism: A Case Report
遺傳性抗凝蛋白酵素缺乏症併發肺栓塞：病例報告
摘要
遺傳性凝血病變併發肺栓塞在臨床上並不常見。在年輕之患者若遇有無法解釋之氣促、呼吸困難同時合併有凝血病變時必須考慮到此疾病。我們的病例報告：一位20歲年輕役男，其症狀為運動耐受力下降，咳血和漸進性呼吸困難。在本院予以胸部X光檢查及支氣管鏡檢查但無發覺明顯病灶。檢測丁二聚物（D-dimer）大於2000ng/dL，因此安排肺部灌流和肺部通氣核子醫學掃描檢查，結果檢查發現左下肺部肺葉呈現大片灌流缺損，而肺部通氣掃描檢查則正常，後來經肺動脈血管攝影檢查證實了左下肺動脈栓塞。 追溯病人家族史，發現病人親叔叔在年輕時曾罹患腸阻塞。而這位年輕人因證實有肺栓塞加上家族史為陽性，所以予病人檢測抗凝蛋白酵素、蛋白質C及蛋白質S，結果發現抗凝血蛋白酵素為48.8%（正常值75~125%）。由於抗凝蛋白酵素缺乏症具有高度遺傳傾向，所我們也篩檢了病患其他親屬，結果發現病患之祖父、父親、叔叔、姑姑和妹妹都是抗凝蛋白酵素缺乏症患者。
並列摘要
Hereditary coagulopathy complicated with pulmonary embolism is uncommon clinically. The disease should be considered in young adults with coagulopathy and progressive unexplained dyspnea. We report a 20-year-old young man who was admitted due to episodes of exercise intolerance, hemoptysis and progressive dyspnea. The chest X-ray and bronchoscopy were normal, and the laboratory survey showed D-dimer ＞2000ng/dl. The perfusion scan revealed an extensive left lower lobe perfusion defect but the ventilation scan was normal. Pulmonary angiography disclosed a left lower pulmonary artery filling defect, which confirmed the diagnosis of a pulmonary embolism. Antithrombin III, protein C and protein S were checked in this patient due to his having a pulmonary embolism at such a young age. The antithrombin III level was 48.8% (normal range: 75-125%). We screen the antithrombin III level of his family, since antithrombin III deficiency has a highly-inheritable tendency. We found that his grandfather, father, uncle, aunt and younger sister all had an antithrombin III deficiency.