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一名患有JAK2突变的27岁女性:一例因长期服用口服避孕药继发布加综合征的病例。

A 27-Year-Old Female With JAK2 Mutation: A Case of Budd-Chiari Syndrome Secondary to Prolonged Oral Contraceptive Pill Use.

作者信息

Karns John P, Nguyen An, Wong Nikita, True-Malhotra Aisha, Smythe Dennis, Vemulapalli Raghavendra

机构信息

Medical School, College of Osteopathic Medicine, Michigan State University, Detroit, USA.

Family Medicine, Henry Ford Health System, Detroit, USA.

出版信息

Cureus. 2024 Jul 18;16(7):e64858. doi: 10.7759/cureus.64858. eCollection 2024 Jul.

Abstract

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.

摘要

患有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,由于JAK2突变,其血栓形成风险增加。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。否则,或使这种状态恶化,可能会导致严重后果。我们报告一例27岁女性病例,她有溃疡性结肠炎(UC)和ET病史,目前正在服用含雌激素的口服避孕药(OCP)。她因体重迅速增加、黄疸、恶心和腹泻就诊于急诊科,检查发现有阻塞性黄疸和血栓形成,血栓延伸至门静脉、肠系膜静脉、脾静脉和肝静脉。第二次尝试时,成功进行了经颈静脉肝内门体分流术,静脉血流得到改善。该病例强调了在因JAK2突变(例如JAK2基因中的V617F突变)导致高凝状态的患者中谨慎用药(尤其是OCP)的重要性。它强调了进行密切监测、个体化管理以及采用多学科方法以减轻血栓形成并发症的必要性。提高认识和持续研究对于优化MPN及相关基因突变患者的治疗策略至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db30/11330322/e3e09bde88e8/cureus-0016-00000064858-i01.jpg

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