Department of Medical Sciences, Surgery and Neurosciences, Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease Clinic, University of Siena, Siena, Italy; Rheumatology Unit, Policlinico "Le Scotte", Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) Center] Siena, viale Bracci 16, Siena 53100, Italy.
Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Semin Arthritis Rheum. 2024 Jun;66:152430. doi: 10.1016/j.semarthrit.2024.152430. Epub 2024 Mar 18.
VEXAS syndrome is a recently described monogenic autoinflammatory disease capable of manifesting itself with a wide array of organs and tissues involvement. Orbital/ocular inflammatory manifestations are frequently described in VEXAS patients. The objective of this study is to further describe orbital/ocular conditions in VEXAS syndrome while investigating potential associations with other disease manifestations. In the present study, twenty-seven out of 59 (45.8 %) VEXAS patients showed an inflammatory orbital/ocular involvement during their clinical history. The most frequent orbital/ocular affections were represented by periorbital edema in 8 (13.6 %) cases, episcleritis in 5 (8.5 %) patients, scleritis in 5 (8.5 %) cases, uveitis in 4 (6.8 %) cases, conjunctivitis in 4 (6.8 %) cases, blepharitis in 3 (5.1 %) cases, orbital myositis in 2 (3.4 %) cases. A diagnosis of systemic immune-mediated disease was observed in 15 (55.6 %) cases, with relapsing polychondritis diagnosed in 12 patients. A significant association was observed between relapsing polychondritis and orbital/ocular involvement in VEXAS syndrome (Relative Risk: 2.37, 95 % C.I. 1.03-5.46, p = 0.048). Six deaths were observed in the whole cohort of patients after a median disease duration of 1.2 (IQR=5.35) years, 5 (83.3 %) of which showed orbital/ocular inflammatory involvement. In conclusion, this study confirms that orbital/ocular inflammatory involvement is a common finding in VEXAS patients, especially when relapsing polychondritis is diagnosed. This makes ophthalmologists a key figure in the diagnostic process of VEXAS syndrome. The high frequency of deaths observed in this study seems to suggest that patients with orbital/ocular involvement may require increased attention and more careful follow-up.
VEXAS 综合征是一种新近描述的单基因自身炎症性疾病，能够表现出广泛的器官和组织受累。眼眶/眼部炎症表现经常在 VEXAS 患者中被描述。本研究的目的是进一步描述 VEXAS 综合征中的眼眶/眼部情况，同时研究其与其他疾病表现之间的潜在关联。在本研究中，59 例 VEXAS 患者中有 27 例（45.8%）在其临床病史中表现出炎症性眼眶/眼部受累。最常见的眼眶/眼部病变是 8 例（13.6%）患者的眶周水肿，5 例（8.5%）患者的巩膜炎，5 例（8.5%）患者的巩膜炎，4 例（6.8%）患者的葡萄膜炎，4 例（6.8%）患者的结膜炎，3 例（5.1%）患者的睑缘炎，2 例（3.4%）患者的眼眶肌炎。15 例（55.6%）患者诊断为系统性免疫介导性疾病，其中 12 例患者诊断为复发性多软骨炎。在 VEXAS 综合征中，复发性多软骨炎与眼眶/眼部受累之间存在显著相关性（相对风险：2.37，95%CI 1.03-5.46，p=0.048）。在整个患者队列中，观察到 6 例死亡，中位疾病持续时间为 1.2（IQR=5.35）年，其中 5 例（83.3%）有眼眶/眼部炎症受累。总之，本研究证实，眼眶/眼部炎症受累是 VEXAS 患者的常见表现，尤其是当诊断为复发性多软骨炎时。这使得眼科医生成为 VEXAS 综合征诊断过程中的关键人物。本研究观察到的高死亡率似乎表明，有眼眶/眼部受累的患者可能需要更多的关注和更仔细的随访。
