%0 Journal Article
%T Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry.
%A Vitale A
%A Caggiano V
%A Martin-Nares E
%A Frassi M
%A Dagna L
%A Hissaria P
%A Sfriso P
%A Hernández-Rodríguez J
%A Ruiz-Irastorza G
%A Monti S
%A Tufan A
%A Piga M
%A Giardini HAM
%A Lopalco G
%A Viapiana O
%A De Paulis A
%A Triggianese P
%A Vitetta R
%A de-la-Torre A
%A Fonollosa A
%A Caroni F
%A Sota J
%A Conticini E
%A Sbalchiero J
%A Renieri A
%A Casamassima G
%A Wiesik-Szewczyk E
%A Yildirim D
%A Hinojosa-Azaola A
%A Crisafulli F
%A Franceschini F
%A Campochiaro C
%A Tomelleri A
%A Callisto A
%A Beecher M
%A Bindoli S
%A Baggio C
%A Gómez-Caverzaschi V
%A Pelegrín L
%A Soto-Peleteiro A
%A Milanesi A
%A Vasi I
%A Cauli A
%A Antonelli IPB
%A Iannone F
%A Bixio R
%A Casa FD
%A Mormile I
%A Gurnari C
%A Fiorenza A
%A Mejia-Salgado G
%A Kawakami-Campos PA
%A Ragab G
%A Ciccia F
%A Ruscitti P
%A Bocchia M
%A Balistreri A
%A Tosi GM
%A Frediani B
%A Cantarini L
%A Fabiani C
%J Semin Arthritis Rheum
%V 66
%N 0
%D 2024 Jun 18
%M 38554594
%F 5.431
%R 10.1016/j.semarthrit.2024.152430
%X 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.