Pemmaraju Naveen, Hamilton James Peter, Cameron Andrew M, Sisson Stephen, Moliterno Alison R
MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA.
J Med Case Rep. 2012 Apr 5;6:102. doi: 10.1186/1752-1947-6-102.
An unprovoked thombotic event in a patient is cause for further evaluation of an underlying hypercoaguable state. The investigation should include a thorough search, including checking for a variety of known inherited and acquired hypercoaguble states (protein C or S deficiency, anti-phospholipid antibodies, and anti-thrombin III deficiency) and gene mutations that predispose patients to an increased risk of clotting (for example, prothrombin gene 20210 mutation, factor V Leiden, and the JAK2 V617F mutation).
We report the case of a 38-year-old Caucasian woman with spontaneous, unprovoked abdominal venous thrombosis and demonstrate how testing for the JAK2 V617F mutation was useful in unmasking an underlying hypercoaguable state.
JAK2 V617F-positive myeloproliferative neoplasm was diagnosed. This case illustrates the importance of testing for JAK2 V617F in patients presenting with Budd-Chiari syndrome, even in the absence of overt hematologic abnormalities, in order to establish a diagnosis of underlying myeloproliferative neoplasm.
患者发生不明原因的血栓形成事件需要对潜在的高凝状态进行进一步评估。检查应全面，包括检测各种已知的遗传性和获得性高凝状态（蛋白C或S缺乏、抗磷脂抗体以及抗凝血酶III缺乏），以及检测使患者有更高凝血风险的基因突变（例如，凝血酶原基因20210突变、因子V莱顿突变和JAK2 V617F突变）。
我们报告了一名38岁白人女性自发发生不明原因腹部静脉血栓形成的病例，并展示了检测JAK2 V617F突变如何有助于揭示潜在的高凝状态。
诊断为JAK2 V617F阳性骨髓增殖性肿瘤。该病例说明了对于布加综合征患者，即使没有明显血液学异常，检测JAK2 V617F以明确潜在骨髓增殖性肿瘤诊断的重要性。
