1. Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.
- Author
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Vitale A, Caggiano V, Martin-Nares E, Frassi M, Dagna L, Hissaria P, Sfriso P, Hernández-Rodríguez J, Ruiz-Irastorza G, Monti S, Tufan A, Piga M, Giardini HAM, Lopalco G, Viapiana O, De Paulis A, Triggianese P, Vitetta R, de-la-Torre A, Fonollosa A, Caroni F, Sota J, Conticini E, Sbalchiero J, Renieri A, Casamassima G, Wiesik-Szewczyk E, Yildirim D, Hinojosa-Azaola A, Crisafulli F, Franceschini F, Campochiaro C, Tomelleri A, Callisto A, Beecher M, Bindoli S, Baggio C, Gómez-Caverzaschi V, Pelegrín L, Soto-Peleteiro A, Milanesi A, Vasi I, Cauli A, Antonelli IPB, Iannone F, Bixio R, Casa FD, Mormile I, Gurnari C, Fiorenza A, Mejia-Salgado G, Kawakami-Campos PA, Ragab G, Ciccia F, Ruscitti P, Bocchia M, Balistreri A, Tosi GM, Frediani B, Cantarini L, and Fabiani C
- Subjects
- Humans, Male, Female, Adult, Middle Aged, Young Adult, Adolescent, Orbital Diseases, Hereditary Autoinflammatory Diseases diagnosis, Eye Diseases epidemiology, Child, Aged, Scleritis epidemiology, Scleritis diagnosis, Polychondritis, Relapsing diagnosis, Polychondritis, Relapsing complications, Polychondritis, Relapsing epidemiology, Registries
- Abstract
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., Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest for this work., (Copyright © 2024. Published by Elsevier Inc.)
- Published
- 2024
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