费城染色体阴性骨髓增殖性肿瘤(MPN)如真性红细胞增多症和原发性血小板增多症(ET)的个体显示与JAK2突变相关的血栓风险增加。医生在治疗这些患者时必须注意,尽可能减轻这种促血栓形成状态。未能这样做,或者加剧国家,会导致可怕的后果。我们介绍了一个27岁的女性,有溃疡性结肠炎(UC)和ET的历史,目前服用含雌激素的口服避孕药(OCPs)。她向急诊科介绍了体重迅速增加的情况,黄疸,恶心,和腹泻,被发现有阻塞性黄疸和血栓负担,延伸到门静脉,肠系膜,脾,和肝静脉.在第二次尝试中,成功进行了经颈静脉肝内门体分流术,从而改善静脉流量。这个案例强调了谨慎用药的重要性,尤其是OCP,在由于JAK2突变而导致高凝状态的患者中,例如,JAK2中的V617F突变。它强调需要警惕监测,个性化管理,和多学科的方法来减轻血栓并发症。提高意识和持续研究对于优化MPN和相关基因突变患者的治疗策略至关重要。
Individuals with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) such as polycythemia vera and essential thrombocythemia (ET) demonstrate an increased thrombotic risk associated with JAK2 mutations. Physicians must take heed when treating these patients, to mitigate this pro-thrombotic state as much as possible. Failure to do so, or exacerbating the state, can lead to dire consequences. We present the
case of a 27-year-old female with a history of ulcerative colitis (UC) and ET, currently taking estrogen-containing oral contraceptive pills (OCPs). She presented to the emergency department with rapid weight gain, jaundice, nausea, and diarrhea and was found to have obstructive jaundice and thrombotic burden that extended into the portal, mesenteric, splenic, and hepatic veins. On the second attempt, a successful transjugular intrahepatic portosystemic shunt procedure was performed, resulting in improved venous flow. This
case underscores the importance of cautious medication use, especially OCPs, in patients with hypercoagulable states due to JAK2 mutations, for example, the V617F mutation in JAK2. It emphasizes the need for vigilant monitoring, individualized management, and a multidisciplinary approach to mitigate thrombotic complications. Increased awareness and continued research are crucial for optimizing treatment strategies for patients with MPNs and associated genetic mutations.