VEXAS(空泡,E1酶,X-linked,自身炎症,体细胞)综合征是由UBA-1基因突变引起的一种新描述的自身炎症实体。在最常见的症状中,它产生发烧,血细胞减少,多软骨炎,肺浸润和高达40%的眼部受累,如眶周水肿,葡萄膜炎,上巩膜炎,巩膜炎和视网膜血管炎。患者对高剂量的皮质类固醇有反应,然而,许多人最终对他们和经典的免疫抑制剂难以治愈。我们描述了一名77岁的男性患者,其眼部受累表现为上巩膜炎和眶周水肿,后来被诊断为VEXAS综合征。病人,免疫抑制剂治疗失败后,目前正在接受口服类固醇和托珠单抗治疗。眼科医生必须意识到自身炎性疾病的眼科影响,尤其是这种被描述为VEXAS综合征的新实体。
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described autoinflammatory entity caused by a UBA-1 gene mutation. Among the most frequent symptoms it produces fever, cytopenias, polychondritis, pulmonary infiltrates and up to 40% ocular involvement such as periorbital edema, uveitis, episcleritis, scleritis and retinal vasculitis. Patients respond to high doses of corticosteroids, however, many end up being refractory to them and to the classic immunosuppressants. We described the case of a 77-year-old male patient with ocular involvement in the form of episcleritis and periorbital edema who was later diagnosed with VEXAS Syndrome. The patient, after failing treatment with immunosuppressants, is currently receiving treatment with oral steroids and tocilizumab. Ophthalmologist must be aware of the ophthalmological affectation of autoinflammatory diseases and especially of this new entity described as the VEXAS Syndrome.