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Abstract：
VEXAS syndrome is a recently described autoinflammatory syndrome caused by the somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation can mimic several rheumatologic disorders, delaying the diagnosis. We describe a case of atypical presentation resembling late-onset axial spondylarthritis, later progressing to a systemic inflammatory syndrome with chondritis, cutaneous vasculitis, and transfusion-dependent anemia, requiring high doses of steroids. Ruxolitinib was used as the first steroid-sparing strategy without response. However, azacitidine showed activity in controlling both inflammation and the mutant clone. This case raises the question of whether azacitidine\'s anti-inflammatory effects are dependent on or independent of clonal control. We discuss the potential relevance of molecular remission in VEXAS syndrome and highlight the importance of a multidisciplinary team for the care of such complex patients.
摘要：
VEXAS综合征是一种最近描述的自身炎症综合征，由髓样前体中UBA1突变的体细胞获得引起，并且通常与血液恶性肿瘤有关。主要是骨髓增生异常综合征。疾病表现可以模拟几种风湿病，延迟诊断。我们描述了一个非典型表现，类似迟发性轴向脊椎关节炎的病例，后来进展为软骨炎的全身性炎症综合征，皮肤血管炎,输血依赖性贫血,需要高剂量的类固醇.Ruxolitinib被用作第一个类固醇保留策略，没有反应。然而,阿扎胞苷显示出控制炎症和突变克隆的活性。该病例提出了阿扎胞苷的抗炎作用是否依赖于或独立于克隆控制的问题。我们讨论了分子缓解在VEXAS综合征中的潜在相关性，并强调了多学科团队对此类复杂患者护理的重要性。
