Academy
Ophthalmic Involvement in VEXAS Syndrome: A Potential Marker of Poorer Prognosis
Data from the international AIDA Network registry reveal that ocular inflammation is common in VEXAS syndrome and is independently associated with increased mortality, underscoring the importance of ophthalmological assessment and multidisciplinary care.
A new study based on data from the international AIDA Network registries has been published in Frontiers in Immunology, providing the first detailed characterization of ophthalmic manifestations in patients with VEXAS syndrome and investigating their association with mortality.
The study included 86 patients with genetically confirmed VEXAS syndrome. Ophthalmic involvement was documented in 47.7% of patients, with orbital inflammation representing the most common manifestation. Other findings included scleritis, uveitis and episcleritis. Ocular inflammation was frequently present at disease onset or before the diagnosis of VEXAS syndrome, highlighting its potential diagnostic relevance.
Importantly, ophthalmic involvement was significantly associated with a higher risk of death (relative risk 5.87) and independently predicted mortality in the multivariable analysis (odds ratio 3.72). Ocular manifestations were also significantly associated with relapsing polychondritis. Most cases of uveitis and scleritis showed complete or partial responses to topical and/or systemic glucocorticosteroids, while inflammatory orbitopathy sometimes required additional advanced therapies.
These findings highlight ophthalmic involvement as an important clinical feature in VEXAS syndrome, potentially providing a warning sign of a poorer prognosis. They also emphasize the need for early recognition of ocular manifestations, close monitoring and collaboration between rheumatologists, ophthalmologists and other specialists involved in the care of these patients. The study further demonstrates the contribution of the AIDA Network registries to advancing knowledge of rare and complex autoinflammatory diseases.