Patil Chandrashekar, Ananthu Venkata Ramya, Junaid Mohd Abdul Haq, Lavanya Polneni, Jabeen Safiya
Radiodiagnosis, Malla Reddy Medical College for Women, Hyderabad, IND.
Cureus. 2024 Dec 28;16(12):e76547. doi: 10.7759/cureus.76547. eCollection 2024 Dec.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders commonly characterized by excessive production of blood cell lineages. The JAK2 V617F mutation plays a crucial role in the pathogenesis of these conditions, often leading to thrombotic complications. Here, we present the case of a 21-year-old man who presented with acute abdominal pain and was found to have portal vein thrombosis with splenomegaly. Imaging studies confirmed chronic portal vein thrombosis with extensive collateral circulation. Laboratory evaluation revealed an elevated platelet count, and genetic testing confirmed the presence of the JAK2 V617F mutation, suggestive of essential thrombocythemia. The patient was managed with anticoagulation (apixaban) and cytoreductive therapy (hydroxyurea). This case emphasizes the importance of considering underlying MPNs in young patients presenting with unusual thrombotic events, and highlights the significance of early diagnosis and targeted treatment in improving patient outcomes.
骨髓增殖性肿瘤（MPNs）是一类克隆性造血干细胞疾病，通常以血细胞系过度增殖为特征。JAK2 V617F突变在这些疾病的发病机制中起关键作用，常导致血栓形成并发症。在此，我们报告一例21岁男性患者，该患者因急性腹痛就诊，检查发现存在门静脉血栓形成并伴有脾肿大。影像学检查证实为慢性门静脉血栓形成并伴有广泛的侧支循环。实验室检查显示血小板计数升高，基因检测证实存在JAK2 V617F突变，提示原发性血小板增多症。该患者接受了抗凝治疗（阿哌沙班）和细胞减灭治疗（羟基脲）。本病例强调了对于出现不寻常血栓事件的年轻患者考虑潜在MPNs的重要性，并突出了早期诊断和靶向治疗对改善患者预后的意义。
