Huang Jingyi, Zhang Yunjian, Yu Haixu, Liu Wei
Department of Cardiology, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.
Peking University Health Science Center, Beijing, China.
Front Cardiovasc Med. 2025 Jul 23;12:1610580. doi: 10.3389/fcvm.2025.1610580. eCollection 2025.
Venous thromboembolism (VTE) is influenced by both genetic and acquired risk factors, with protein S (PS) deficiency recognized as a well-established inherited thrombophilia. Introduction: We report the case of a 32-year-old male patient presenting with mesenteric venous thrombosis and pulmonary embolism caused by a missense mutation in during the COVID-19 pandemic.
The patient presented with pleuritic chest pain and low-grade fever 15 days after a confirmed COVID-19 infection. Despite initial treatment with glucocorticoids and a macrolide antibiotic, his symptoms worsened and his D-dimer level increased. CT pulmonary angiography confirmed an acute pulmonary embolism.
Clinical history revealed a prior episode of mesenteric vein thrombosis and multiple acquired risk factors, including obesity, sedentariness, COVID-19 infection, glucocorticoid treatment, inflammatory response (elevated CRP and serum ferritin levels), and metabolic abnormalities (non-alcoholic fatty liver disease, hyperuricemia, and hyperlipidemia). Laboratory testing showed decreased PS activity, and genetic sequencing identified a heterozygous missense mutation in , c.683G>A (p.Cys228Tyr). The patient was treated with low-molecular-weight heparin (LMWH) followed by rivaroxaban. Discussion: No recurrence of VTE of bleeding events was observed during a one-year follow-up, suggesting effective management of thrombosis in the context of both inherited and acquired prothrombotic conditions.
静脉血栓栓塞症（VTE）受遗传和后天风险因素的影响，蛋白S（PS）缺乏被认为是一种公认的遗传性易栓症。引言：我们报告了一例32岁男性患者的病例，该患者在新冠疫情期间因[具体基因]中的错义突变导致肠系膜静脉血栓形成和肺栓塞。
该患者在确诊感染新冠病毒15天后出现胸膜炎性胸痛和低热。尽管最初使用糖皮质激素和大环内酯类抗生素进行治疗，但其症状仍加重，D-二聚体水平升高。CT肺动脉造影证实为急性肺栓塞。
临床病史显示既往有肠系膜静脉血栓形成病史以及多种后天风险因素，包括肥胖、久坐不动、新冠病毒感染、糖皮质激素治疗、炎症反应（CRP和血清铁蛋白水平升高）以及代谢异常（非酒精性脂肪性肝病、高尿酸血症和高脂血症）。实验室检查显示PS活性降低，基因测序在[具体基因]中鉴定出一个杂合错义突变，c.683G>A（p.Cys228Tyr）。该患者接受了低分子量肝素（LMWH）治疗，随后使用利伐沙班。讨论：在一年的随访期间未观察到VTE复发或出血事件，这表明在遗传性和后天性血栓前状态的背景下对血栓形成进行了有效管理。
