Produção Nacional
Revisado por pares
Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry
2024; Elsevier BV; Volume: 66; Linguagem: Inglês
10.1016/j.semarthrit.2024.152430
ISSN1532-866X
AutoresAntonio Vitale, Valeria Caggiano, Eduardo Martín‐Nares, Micol Frassi, Lorenzo Dagna, Pravin Hissaria, Paolo Sfriso, José Hernández‐Rodríguez, Guillermo Ruiz‐Irastorza, Sara Monti, Abdurrahman Tufan, Matteo Piga, Henrique Ayres Mayrink Giardini, Giuseppe Lopalco, Ombretta Viapiana, Amato de Paulis, Paola Triggianese, Rosetta Vitetta, Alejandra de‐la‐Torre, Alex Fonollosa, Federico Caroni, Jurgen Sota, Edoardo Conticini, Jessica Sbalchiero, Alessandra Renieri, Giulia Casamassima, Ewa Więsik–Szewczyk, Derya Yıldırım, Andrea Hinojosa‐Azaola, Francesca Crisafulli, Franco Franceschini, Corrado Campochiaro, Alessandro Tomelleri, Alicia Callisto, Mark Beecher, Sara Bindoli, Chiara Baggio, Verónica Gómez‐Caverzaschi, Laura Pelegrín, Adriana Soto-Peleteiro, Alessandra Milanesi, Ibrahim Vasi, Alberto Cauli, Isabele Parente de Brito Antonelli, Florenzo Iannone, Riccardo Bixio, Francesca Della Casa, Ilaria Mormile, Carmelo Gurnari, Alessia Fiorenza, Germán Mejía‐Salgado, Perla Ayumi Kawakami‐Campos, Gaafar Ragab, Francesco Ciccia, Piero Ruscitti, Monica Bocchia, Alberto Balistreri, Gian Marco Tosi, Bruno Frediani, Luca Cantarini, Claudia Fabiani,
Tópico(s)Coagulation, Bradykinin, Polyphosphates, and Angioedema
ResumoVEXAS 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.
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