Department of Haematology, University College Hospital/College of Medicine, University of Ibadan, Ibadan, Oyo State,Nigeria.
Department of Medicine, University College Hospital, Ibadan, Oyo State, Nigeria.
West Afr J Med. 2021 Apr 23;38(4):387-390.
Protein C deficiency increases the risk of an individual to develop thromboembolism and its complications. Clinical presentation of the complication of thrombosis in an unusual site may becloud clinical judgment resulting in missed diagnosis. We present an unusual case of protein C deficiency presenting with symptoms referable to the gastrointestinal system. A 34-year-old male with recurrent abdominal discomfort and bloating, managed as a case of gastro-oesophageal reflux disease with poor clinical outcome. Physical examination was unremarkable. Upper gastrointestinal endoscopy showed varices. Abdominal ultrasound scan and CT scan of the abdomen revealed thrombus in the portal vein. Functional assays of protein C and S revealed reduce protein C activity at 65 % (70 - 140%). This case emphasizes the need for extensive investigations in patients with common, sometimes neglected abdominal symptom such as bloating. It has also contributed in expanding the differential diagnosis of bloating and manifestations of protein C deficiency.
蛋白质 C 缺乏症会增加个体发生血栓栓塞及其并发症的风险。血栓形成并发症在不常见部位的临床表现可能会混淆临床判断，导致漏诊。我们报告了一例不常见的蛋白质 C 缺乏症病例，其临床表现为胃肠道症状。一名 34 岁男性反复出现腹部不适和腹胀，被误诊为胃食管反流病，但临床疗效不佳。体格检查无明显异常。上消化道内镜检查显示静脉曲张。腹部超声扫描和腹部 CT 扫描显示门静脉血栓形成。蛋白质 C 和 S 的功能检测显示蛋白质 C 活性降低 65%（70-140%）。本例强调了对有常见、有时被忽视的腹部症状（如腹胀）的患者进行广泛检查的必要性。它还扩展了腹胀和蛋白质 C 缺乏症表现的鉴别诊断。
