Clinical Images: Ureteritis in VEXAS syndrome

Abstract

The patient, a 75-year-old man with VEXAS syndrome treated with glucocorticoids, methotrexate, and tocilizumab, presented with severe, acute right flank pain. Over the preceding 6 years, his disease was characterized by steroid-responsive inflammatory events including orbitopathy, panniculitis, phlebitis, pulmonary infiltrates, and later, pancytopenia due to myelodysplasia. VEXAS was confirmed by ubiquitin A1 (UBA1) gene sequencing. Investigations revealed mild acute renal impairment (estimated glomerular filtration rate [eGFR] 75 mL/min/1.73 m 2 ), pancytopenia (hemoglobin level 88 g/L, white cell count 3.5 × 10 9 /L, platelet count 99 × 10 9 /L), and low markers of inflammation (C-reactive protein level 6 mg/L). Urine and blood cultures showed no evidence of infection. Portal venous phasic abdominal and pelvic computer tomography and intravenous pyelography without dual-energy technique demonstrated right ureteric wall thickening, uretopelvicaliectasis secondary to long segment, circumferential thickening of the proximal third of the right ureter with periureteric fat stranding, normal cortical thickness, and delayed nephrogram without ureterolithiasis (coronal image in A; axial in B). The contrast dose was not modified because the eGFR was greater than 30 mL/min/1.73 m 2 as per our hospital's protocol, and to our knowledge, there is no known association of contrast-induced nephrotoxicity with this syndrome. Treatment with empiric antibiotics was initiated with concurrent high-dose glucocorticoids (prednisone 50 mg daily). A ureteric stent was inserted with prompt symptom resolution; it was removed 3 weeks later. Ureteritis is generally caused by infection; however, there are case reports associated with IgA vasculitis, granulomatosis with polyangiitis, systemic lupus erythematosus, IgG4-related disease, and rheumatoid arthritis. 1 VEXAS syndrome is a recently described autoinflammatory condition caused by a somatic mutation in the UBA1 gene. 2 Activation of innate immune inflammatory signalling in myeloid cells leads to a plethora of dramatic inflammatory manifestations such as chondritis, pulmonary infiltrates, neutrophilic dermatosis, and vasculitis. 2 This is an initial documentation of ureteritis complicating VEXAS syndrome. Prompt recognition of the protean manifestations of this increasingly recognized disease is crucial for diagnosis and improving outcomes. 3