A complex case of recurrent bilateral alternating orbital inflammation associated to VEXAS syndrome.

Abstract

VEXAS syndrome is a rare disorder marked by systemic inflammation and blood disorders, caused by somatic mutations in the UBA1 gene of hematopoietic stem cells. Ocular manifestations are common in VEXAS syndrome. This study reports a 63-year-old male presenting with recurrent periorbital and orbital inflammation, dacryoadenitis, and orbital myositis. He first developed orbital inflammation in the right orbit, later in the left orbit. He was treated with systemic corticosteroid therapy. During a 2-year follow-up, he developed multi-organ inflammatory disorder and recurrence of orbital inflammation whenever the systemic corticosteroid dose fell below 20 mg/day. Ultimately, he was diagnosed with VEXAS syndrome. Identification of VEXAS syndrome in elder male patients with orbital inflammation is essential for tailored management. Treatment typically involves corticosteroids and, in refractory cases, Janus kinase inhibitors like ruxolitinib or IL-6 inhibitors. This case highlights the importance of considering VEXAS syndrome in the differential diagnosis of orbital inflammation, particularly in elderly males with concurrent inflammatory and hematologic abnormalities.