Abstract Background Vacuoles, E1 enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome is a recently described multisystem disease. Opportunistic infections in VEXAS syndrome are increasingly being recognized, with multiple factors including immune dysregulation due to aberrant ubiquitination pathway, secondary effects from chronic immunosuppressive treatments and underlying comorbidities contributing. Given lack of consensus guidelines on antimicrobial prophylaxis, clinical practice is heterogenous with varying treatment outcomes. Case presentation: Herein, we report a rare case of cryptococcal meningitis in a patient with treatment refractory VEXAS syndrome, on chronic moderate-dose corticosteroid (average 20mg per day) and ruxolitinib. The patient initially presented with acute confusion and fevers, with elevated inflammatory markers and worsening cytopaenia. The differential diagnoses included an acute flare of VEXAS syndrome and intercurrent infection. Further testing revealed presence of Cryptococcus neoformans in the cerebrospinal fluid. Thereafter, antifungal therapy was initiated, however the patient suffered from irreversible functional decline despite successful antimicrobial clearance. Conclusion The case raises important considerations, firstly regarding antimicrobial - particularly antifungal - prophylaxis given paucity of guidelines, secondly prompt diagnosis and treatment of cryptococcal infections, and finally regular interval screening for opportunistic infections in this vulnerable patient cohort. A multidisciplinary approach to care is required to improve morbidity and mortality from atypical infections in VEXAS syndrome.
Ma et al. (Tue,) studied this question.