VEXAS综合征的临床特点及治疗现状

Clinical Characteristics and Treatment Status of VEXAS Syndrome

VEXAS综合征是一种由UBA1体细胞变异引起的具有风湿病和血液学特征的成人起病的炎症综合征,为一种严重的进展性疾病,表现出广泛的器官损害,与其他疾病鉴别困难,该类患者常常辗转于医院各大科室。临床实验室检查缺乏特异性,目前诊断完全基于外周血中致病性UBA1变异的基因检测。当前VEXAS综合征缺乏有效的治疗措施,部分患者能通过细胞毒性、酶抑制及免疫抑制治疗缓解病情,而异基因造血干细胞移植也仅在极少数患者中取得较好的治疗效果。VEXAS综合征的临床特征不典型,诊断困难,且缺乏有效的治疗措施,这导致VEXAS综合征死亡率极高,所以及时诊断和尽早采取治疗措施至关重要。本文就VEXAS综合征的临床特点、实验室检查和治疗进行综述,以提高临床医师对VEXAS综合征的认识和诊疗能力。

VEXAS syndrome is an adult-onset inflammatory syndrome with rheumatic and hematological characteristics caused by somatic variation of UBA1.VEXAS syndrome is a serious progressive disease with extensive organ damage,which is difficult to distinguish from other diseases.Therefore,patients with this disease are often transferred to various departments of the hospital.Clinical laboratory tests lack specificity,and the current diagnosis is entirely based on genetic testing of pathogenic UBA1 mutations in peripheral blood.At present,there is no effective treatment for VEXAS syndrome.Some patients can alleviate the disease through cytotoxicity,enzyme inhibition and immunosuppressive therapy,while allogeneic hematopoietic stem cell transplantation has achieved good therapeutic effects in only a few patients.The clinical features of VEXAS syndrome are not typical,the diagnosis is difficult,and there is a lack of effective treatment measures,which leads to a high mortality rate of VEXAS syndrome.Therefore,timely diagnosis and early treatment are very important.This article reviews the clinical characteristics,laboratory examination and treatment of VEXAS syndrome,in order to improve clinicians'understanding and diagnosis and treatment of VEXAS syndrome.