Austestad Janne, Madland Tor Magne, Sandnes Miriam, Haslerud Torjan Magne, Benneche Andreas, Reikvam Håkon
Department of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.
Department of Rheumatology, Haukeland University Hospital, N-5021 Bergen, Norway.
Case Rep Hematol. 2023 Feb 25;2023:6551544. doi: 10.1155/2023/6551544. eCollection 2023.
VEXAS syndrome stands for vacuoles, E1 enzyme, -linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the . There is an association between VEXAS and hematological conditions such as myelodysplastic syndrome (MDS), monoclonal gammopathies of uncertain conditions (MGUS), multiple myeloma (MM), and monoclonal B-cell lymphoproliferative conditions. There are not many descriptions of patients having VEXAS in combination with myeloproliferative neoplasm (MPN). With this article, we want to present a case history of a man in his sixties with a V617F mutated essential thrombocythemia (ET) developing VEXAS syndrome. The inflammatory symptoms occurred three and a half years after the ET diagnosis. He started to experience symptoms of autoinflammation and an overall worsening of his health, and blood work showed high inflammatory markers, leading to repeated hospitalizations. His major complaint was stiffness and pain, and high dosages of prednisolone were necessary to obtain pain relief. He subsequently developed anemia and significantly variable levels of thrombocytes, which previously were at a steady level. To evaluate his ET, we made a bone marrow smear demonstrating vacuolated myeloid and erythroid cells. Having VEXAS syndrome in mind, genetic testing identifying the gene mutation was performed, thus confirming our suspicion. The work-up with myeloid panel on his bone marrow identified genetic mutation in the too. After developing VEXAS syndrome, he experienced thromboembolic events with both cerebral infarction and pulmonary embolism. Thromboembolic events are also common in mutated patients, but in his case, they presented first after VEXAS had developed. Throughout the course of his condition, several attempts with prednisolone tapering and steroid sparing drugs were tried. He could not get pain relief unless the combination of medications included a relatively high dose of prednisolone. Currently, the patient uses prednisolone, anagrelide, and ruxolitinib, with partial remission and fewer hospitalizations and more stabilized hemoglobin and thrombocytes.
VEXAS综合征代表空泡、E1酶、相关、自身炎症性、体细胞综合征。该综合征是一种由体细胞突变引起的血液学和风湿病合并病症。VEXAS与血液学病症如骨髓增生异常综合征（MDS）、意义未明的单克隆丙种球蛋白病（MGUS）、多发性骨髓瘤（MM）以及单克隆B细胞淋巴增殖性病症之间存在关联。关于患有VEXAS综合征合并骨髓增殖性肿瘤（MPN）的患者描述并不多。通过本文，我们想呈现一位60多岁男性的病例史，他患有V617F突变的原发性血小板增多症（ET）并发展为VEXAS综合征。炎症症状在ET诊断三年半后出现。他开始出现自身炎症症状且整体健康状况恶化，血液检查显示炎症标志物升高，导致反复住院。他的主要主诉是僵硬和疼痛，需要高剂量的泼尼松龙才能缓解疼痛。随后他出现贫血，血小板水平显著波动，而之前血小板水平一直稳定。为评估他的ET，我们进行了骨髓涂片检查，发现有髓样和红系细胞空泡化。考虑到VEXAS综合征，进行了基因检测以确定 基因突变，从而证实了我们的怀疑。对他的骨髓进行的髓系检测也发现了 基因突变。在发展为VEXAS综合征后，他经历了脑梗死和肺栓塞等血栓栓塞事件。血栓栓塞事件在 突变患者中也很常见，但在他的病例中，这些事件是在VEXAS综合征发展后首次出现。在他患病的整个过程中，尝试了几次逐渐减少泼尼松龙用量和使用类固醇替代药物的方法。除非药物组合中包括相对高剂量的泼尼松龙，否则他无法缓解疼痛。目前，该患者使用泼尼松龙、阿那格雷和芦可替尼，病情部分缓解，住院次数减少，血红蛋白和血小板更稳定。
