Novel genetic mutation in myositis-variant of VEXAS syndrome
James S. Topilow, Daniela Ospina Cardona, David B. Beck, Marcela A. Ferrada, Zsuzsanna H. McMahan, Julie J. Paik
Abstract
Dear Editor, Herein we describe a novel phenotype of the recently described vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome [1]. A 57-year-old male with previously documented mild leukopenia (2.1–2.8 K/μl) and neutropenia (0.8–1.3 cells/μl) in 2018 had been otherwise healthy. In January 2021, he presented with a week of self-resolving laryngitis and horizontal diplopia with decreased ductions of the right eye. MRI imaging of his ocular orbits revealed increased T2 signal enhancement of his right medial rectus, consistent with orbital myositis (Fig. 1). In April 2021, diplopia recurred with decreased ductions of the left eye, and stiffness of his left wrist and third proximal interphalangeal joint, which self-resolved after a few days. In July 2021, he developed right ear chondritis and ankle stiffness, which resolved following a methylprednisolone dose-pack. As part of an evaluation for noted leucopenia, a bone marrow biopsy revealed hypercellularity without increased number of blasts or vacuoles. Laboratory data showed elevated erythrocyte sedimentation rate 125 mm/h (normal <20.0 mm/h) and C-reactive protein 24.8 mg/l (normal <5.0 mg/l). Anti-nuclear antibodies were positive at 1:320 titre in speckled pattern, while anti-Ro, anti-La, anti-Jo-1, anti-ds-DNA antibodies and ANCA were negative.