Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry

Vitale A.;Caggiano V.;Martin-Nares E.;Frassi M.;Dagna L.;Hissaria P.;Sfriso P.;Hernandez-Rodriguez J.;Ruiz-Irastorza G.;Monti S.;Tufan A.;Piga M.

Membro del Collaboration Group

;Giardini H. A. M.;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.;Gomez-Caverzaschi V.;Pelegrin L.;Soto-Peleteiro A.;Milanesi A.;Vasi I.;Cauli A.

Membro del Collaboration Group

;Antonelli I. P. D. B.;Iannone F.;Bixio R.;Casa F. D.;Mormile I.;Gurnari C.;Fiorenza A.;Mejia-Salgado G.;Kawakami-Campos P. A.;Ragab G.;Ciccia F.;Ruscitti P.;Bocchia M.;Balistreri A.;Tosi G. M.;Frediani B.;Cantarini L.;Fabiani C.

2024-01-01

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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.