Gunnarsson Karin, Vivar Pomiano Nancy, Tesi Bianca, Tobiasson Magnus, Creignou Maria, Ungerstedt Johanna
specialistläkare i reumatologi, Karolinska universitetssjukhuset, Stockholm.
med dr, specialistläkare i reumatologi, Karolinska universitetssjukhuset, Stockholm.
Lakartidningen. 2022 Sep 7;119:22024.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly discovered syndrome caused by a somatic mutation in the UBA1 gene, located in the X chromosome. The syndrome mainly affects older men, and presents with persistent inflammation and rheumatological symptoms like polychondritis, lung infiltrates and dermatitis. Related hematological disturbances are thromboembolic events, macrocytic anemia, myelodysplastic syndrome, and vacuoles found in bone marrow hematopoietic cells. A genetic test of the UBA1 gene confirms the diagnosis when a clinical suspicion of VEXAS is raised. Patients usually respond to prednisolone at a dose of 15-20 mg/day but an effective and well tolerated long-term treatment strategy is still to be defined. The only potentially curative treatment is allogeneic stem cell transplantation. In this case report we present two cases of VEXAS, one of which has undergone an allogeneic stem cell transplantation.
VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞性）综合征是一种新发现的综合征，由位于X染色体上的UBA1基因的体细胞突变引起。该综合征主要影响老年男性，表现为持续性炎症和风湿性症状，如多发性软骨炎、肺部浸润和皮炎。相关的血液系统紊乱包括血栓栓塞事件、大细胞贫血、骨髓增生异常综合征以及在骨髓造血细胞中发现的空泡。当临床怀疑VEXAS时，对UBA1基因进行基因检测可确诊。患者通常对每天15 - 20毫克剂量的泼尼松龙有反应，但仍有待确定一种有效且耐受性良好的长期治疗策略。唯一可能治愈的治疗方法是异基因干细胞移植。在本病例报告中，我们展示了两例VEXAS病例，其中一例接受了异基因干细胞移植。
