TY - JOUR
T1 - Orbital/ocular inflammatory involvement in VEXAS syndrome
T2 - Data from the international AIDA network VEXAS registry
AU - Vitale, Antonio
AU - Caggiano, Valeria
AU - Martin-Nares, Eduardo
AU - Frassi, Micol
AU - Dagna, Lorenzo
AU - Hissaria, Pravin
AU - Sfriso, Paolo
AU - Hernández-Rodríguez, José
AU - Ruiz-Irastorza, Guillermo
AU - Monti, Sara
AU - Tufan, Abdurrahman
AU - Piga, Matteo
AU - Giardini, Henrique A.Mayrink
AU - Lopalco, Giuseppe
AU - Viapiana, Ombretta
AU - De Paulis, Amato
AU - Triggianese, Paola
AU - Vitetta, Rosetta
AU - de-la-Torre, Alejandra
AU - Fonollosa, Alex
AU - Caroni, Federico
AU - Sota, Jurgen
AU - Conticini, Edoardo
AU - Sbalchiero, Jessica
AU - Renieri, Alessandra
AU - Casamassima, Giulia
AU - Wiesik-Szewczyk, Ewa
AU - Yildirim, Derya
AU - Hinojosa-Azaola, Andrea
AU - Crisafulli, Francesca
AU - Franceschini, Franco
AU - Campochiaro, Corrado
AU - Tomelleri, Alessandro
AU - Callisto, Alicia
AU - Beecher, Mark
AU - Bindoli, Sara
AU - Baggio, Chiara
AU - Gómez-Caverzaschi, Verónica
AU - Pelegrín, Laura
AU - Soto-Peleteiro, Adriana
AU - Milanesi, Alessandra
AU - Vasi, Ibrahim
AU - Cauli, Alberto
AU - Antonelli, Isabele Parente de Brito
AU - Iannone, Florenzo
AU - Bixio, Riccardo
AU - Casa, Francesca Della
AU - Mormile, Ilaria
AU - Gurnari, Carmelo
AU - Fiorenza, Alessia
AU - Mejia-Salgado, Germán
AU - Kawakami-Campos, Perla Ayumi
AU - Ragab, Gaafar
AU - Ciccia, Francesco
AU - Ruscitti, Piero
AU - Bocchia, Monica
AU - Balistreri, Alberto
AU - Tosi, Gian Marco
AU - Frediani, Bruno
AU - Cantarini, Luca
AU - Fabiani, Claudia
N1 - Publisher Copyright:
© 2024
PY - 2024/6
Y1 - 2024/6
N2 - 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.
AB - 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.
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U2 - 10.1016/j.semarthrit.2024.152430
DO - 10.1016/j.semarthrit.2024.152430
M3 - Article
C2 - 38554594
AN - SCOPUS:85189076070
SN - 0049-0172
VL - 66
JO - Seminars in Arthritis and Rheumatism
JF - Seminars in Arthritis and Rheumatism
M1 - 152430
ER -