Abstract：
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease first reported in 2020, most commonly seen in men aged 56-75 years old. Common clinical features include skin lesions (83.5%), fever (63.6%), relapsing chondritis (36.4%), venous thrombosis (34.7%) and lymph node enlargement (33.9%). The patient is a man in his 40s who presented with testicular and lower extremity pain, followed by a rash and bicytopenia. He was initiated on corticosteroids and sulfasalazine. He was found to have mediastinal lymphadenopathy and underwent an endobronchial ultrasound and transbronchial needle aspiration followed by a video-assisted thoracic surgery biopsy which were unrevealing. Eventually, an ubiquitin-like modifier activating enzyme (UBA-1) gene analysis was performed that was consistent with VEXAS syndrome. Patients with VEXAS syndrome usually present with a red or violaceous rash and dyspnoea. Laboratory abnormalities include anaemia, elevated mean corpuscular volume, thrombocytopenia and elevated inflammatory markers. Diagnosis is based on the genetic mutation and associated symptoms. The treatment includes steroids and Janus kinase (JAK) inhibitors, specifically ruxolitinib.
摘要：
液泡,E1酶，X-linked,自身炎症,躯体（VEXAS）综合征是一种罕见疾病，最早于2020年报道，最常见于56-75岁的男性。常见的临床特征包括皮肤病变（83.5%），发烧（63.6%），复发性软骨炎(36.4%)，静脉血栓形成（34.7％）和淋巴结肿大（33.9％）。病人是一名40多岁的男子，他表现出睾丸和下肢疼痛，随后出现皮疹和双环减少症。他开始使用皮质类固醇和柳氮磺吡啶。他被发现患有纵隔淋巴结病，并接受了支气管内超声和经支气管针吸活检，然后进行了视频辅助胸外科活检，但未发现。最终,我们进行了与VEXAS综合征一致的泛素样修饰物激活酶(UBA-1)基因分析.VEXAS综合征患者通常表现为红色或紫红色皮疹和呼吸困难。实验室异常包括贫血，平均红细胞体积升高，血小板减少和炎症标志物升高。诊断基于基因突变和相关症状。治疗包括类固醇和Janus激酶（JAK）抑制剂，特别是鲁索替尼。
