Usman Aleena, Jibbran Arsalan, Ahmad Usman, Tariq Fatima, Saleem Muhammad Muaz, Mudassar Muhammad
Internal Medicine Department, Mayo Hospital, Lahore, Pakistan.
Internal medicine Department, Allied Hospital, Faisalabad, Pakistan.
Radiol Case Rep. 2024 Sep 24;19(12):6235-6240. doi: 10.1016/j.radcr.2024.09.052. eCollection 2024 Dec.
Protein S and C deficiency is a rare inherited thrombophilia that predisposes individuals to a hypercoagulable state, leading to clot formation in various locations, such as the deep veins of the legs, cerebral veins, and rarely the portal vein. We present the case of a 21-year-old male who came to the ER with hematemesis and melena secondary to chronic portal vein thrombosis (PVT) without any evidence of cirrhosis. Diagnostic investigations, including ultrasonography and computed tomography, confirmed the presence of thrombosis and cavernous transformation of the portal vein, splenic vein thrombosis, and splenomegaly. Coagulation profiling revealed diminished Protein S and C levels, thus confirming the diagnosis of a combined Protein S and C deficiency. Management involved indefinite anticoagulant therapy with direct oral anticoagulants to mitigate thromboembolic risks associated with the inherited thrombophilia. This case underscores the importance of considering rare coagulation disorders in young patients with unexplained thrombotic events, emphasizing the need for a comprehensive diagnostic approach and timely therapeutic interventions to minimize morbidity and mortality.
蛋白S和C缺乏是一种罕见的遗传性易栓症，使个体易处于高凝状态，导致在各个部位形成血栓，如腿部深静脉、脑静脉，很少发生于门静脉。我们报告一例21岁男性，因慢性门静脉血栓形成（PVT）继发呕血和黑便前来急诊室，无任何肝硬化证据。包括超声检查和计算机断层扫描在内的诊断性检查证实存在血栓形成以及门静脉海绵样变、脾静脉血栓形成和脾肿大。凝血功能检查显示蛋白S和C水平降低，从而确诊为蛋白S和C联合缺乏。治疗包括使用直接口服抗凝剂进行长期抗凝治疗，以降低与遗传性易栓症相关的血栓栓塞风险。该病例强调了在患有不明原因血栓形成事件的年轻患者中考虑罕见凝血障碍的重要性，强调需要采取全面的诊断方法和及时的治疗干预措施，以尽量减少发病率和死亡率。
