Abstract
Introduction VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently identified autoimmune condition predominantly affecting males over 50 years of age. Characterized by hematological dysfunction, systemic inflammation, and recurrent ocular inflammation, VEXAS syndrome presents a diagnostic challenge. Early recognition by ophthalmologists can prevent unnecessary diagnostic procedures and improve patient outcomes.
Case Report We present a case of a 77-year-old male who attended the eye clinic with recurrent episodes of ocular inflammation from 2019 to 2022. Concurrently, he exhibited systemic symptoms including anemia of unknown origin, rash, fevers, breathlessness, and weight loss. Initially misdiagnosed with polyarteritis nodosa following a positive skin biopsy, his refractory anemia and persistent symptoms prompted a reevaluation. A multidisciplinary discussion led to the diagnosis of VEXAS syndrome.
Clinical Features VEXAS syndrome is characterized by:
Skin lesions
Noninfectious fevers
Weight loss (62% of cases)
Lung involvement (50%)
Ocular symptoms (39%)
Relapsing chondritis (36%)
Venous thrombosis (35%)
Lymph node enlargement (34%)
Arthralgia (27%)
Hematological abnormalities (50% with MGUS)
Ophthalmic Manifestations Common ocular presentations include episcleritis, uveitis, scleritis, and i this case, orbital myositis. This case underscores the importance of recognizing these symptoms in conjunction with systemic signs to consider VEXAS syndrome as a differential diagnosis.
Treatment The mainstay treatment for VEXAS involves systemic corticosteroids. Recent advances have explored the use of steroid-sparing agents such as JAK inhibitors, which showed significant improvement in our patient.
Genetic and Molecular Insights VEXAS syndrome is linked to somatic mutations in the UBA1 gene on the X chromosome, leading to vacuoles in bone marrow and autoinflammation. Understanding these genetic underpinnings aids in diagnosis and targeted therapy.
Conclusion VEXAS syndrome, first reported in 2020, remains a critical differential diagnosis for older males presenting with systemic inflammation and ocular symptoms. Ophthalmologists play a vital role in early detection and referral for appropriate genetic testing and multidisciplinary management, improving patient prognosis and reducing the burden of unnecessary investigations.
References
Georgin-Lavialle S, Terrier B, Guedon AF, et al. Further characterization of clinical and laboratory features in VEXAS syndrome. Br J Dermatol. 2022.
Myint K, Patrao N, Vonica O, Vahdani K. Recurrent superior orbital fissure syndrome associated with VEXAS syndrome. J Ophthalmic Inflamm Infect. 2023.
