VEXAS syndrome with spontaneous improvement of chest shadows: a case report

Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an acquired autoinflammatory disease caused by variants in the UBA1 gene. Chest shadows are common among a variety of symptoms and responsive to steroids and other drugs, but sometimes flare up. We present a rare case of VEXAS syndrome in which chest shadows improved after no treatment. Case presentation An 86-year-old Japanese man with diabetes mellitus was admitted for fatigue and elevated serum C-reactive protein levels. Antibiotic therapy was initiated, but no causative organisms were cultured from the various specimens. The patient was discharged after improvement but readmitted after gradual development of anorexia and fatigue. Elevated serum C-reactive protein and bicytopenia were found, and granular and frosted shadows detected in bilateral lungs by chest computed tomography. Bronchoscopy revealed no malignant cells nor granulomas. Bone marrow aspiration was performed due to bicytopenia, revealing vacuoles in proerythroblasts and myeloblasts. Targeted next-generation sequencing with hybrid capture revealed a variant in the UBA1 gene (p.Met41Thr). Thus, the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was made. The patient refused treatment, but there has been no recurrence of worsening of the chest shadows 2 months later. Conclusion VEXAS syndrome typically presents with various symptoms including chest shadows. In cases which the chest shadows have improved with stable condition of VEXAS syndrome, the patient may be followed carefully without any treatment because of concerns about the side effects of steroids or other drugs.