SynthesisRheumatology (Oxford, England)2025
Clinical features in VEXAS syndrome: a systematic review.
Synthesis in Rheumatology (Oxford, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed.
- VEXAS Syndrome: Clues to Avoid Vexation.Journal of cutaneous pathology · 2026Review
- VEXAS Syndrome in Singapore: The First Nationwide Case Series.International journal of rheumatic diseases · 2026Article
- Atypical Presentation of VEXAS Syndrome Amid Coexisting Comorbidities: Diagnosis by High Depth Targeted Sequencing.International journal of rheumatic diseases · 2026Article
- VEXAS syndrome unmasked from relapsing polychondritis and infection mimicry: a case-based review.Rheumatology international · 2026Review
- VEXAS syndrome presenting with severe cutaneous manifestations, inflammatory arthritis, and myelodysplastic syndrome treated with Ruxolitinib.Oxford medical case reports · 2026Article
- VEXAS syndrome with atypical presentation: A case report and review of eosinophils in cutaneous biopsies.JAAD case reports · 2026Article
- A neurologist's guide to VEXAS syndrome: Differentiating somatic autoinflammation from autoimmune mimics.Intractable & rare diseases research · 2026Review
- Cryptococcal meningitis in a patient with VEXAS syndrome: a case report.BMC rheumatology · 2026Article
- VEXAS syndrome.Nature reviews. Disease primers · 2026Review
- Navigating through uncertainty-Experience from the UK national VEXAS MDT.British journal of haematology · 2026Article
- Establishing a consensus definition of VEXAS flare for clinical research.Rheumatology (Oxford, England) · 2026Article
- Article
- A Case of VEXAS Syndrome Initially Masked as Myelodysplastic Syndrome: Importance of Marrow Vacuolization and UBA1 Testing: A Case Report.The American journal of case reports · 2026Article
- A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome.Frontiers in medicine · 2026Article
- Trisomy 8 clonal expansion during disease progression and azacitidine resistance in VEXAS syndrome: a case report.Frontiers in immunology · 2026Article
- Current and future advances in practice: polyarteritis nodosa and related vasculitides.Rheumatology advances in practice · 2026Review
- Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD.Frontiers in immunology · 2026Article
- The First Reported Case of VEXAS Syndrome in Lebanon: Efficacy of Azacitidine as a Therapeutic Option-Case Report.Case reports in hematology · 2026Article
- Rheumatology 2050: How our specialty is changing.Future healthcare journal · 2025Article
- A Vexing Diagnosis: ENT Presentation of Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome.Cureus · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
objectiveTo systematically characterize the complete phenotypic spectrum of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome through comprehensive analysis of all published cases since its discovery in 2020.
methodsWe conducted a systematic review following PRISMA guidelines across five databases. Studies reporting genetically confirmed VEXAS cases were included. To minimize duplicate counting while maximizing data utility, we applied stringent inclusion criteria. Prevalence estimates were calculated using Wilson score intervals. Results were discussed, with secondary analysis focusing on rare manifestations of the disease, and clinical recommendations as appropriate.
resultsAnalysis of 720 patients from 33 case reports and 21 case series across 32 countries revealed cutaneous involvement as the predominant manifestation (81.8%, 95% CI: 78.8-84.5%), followed by constitutional symptoms (69.4%, 95% CI: 66.0-72.7%) and respiratory disease (61.3%, 95% CI: 57.6-64.7%). Joint involvement (47.3%, 95% CI: 43.5-51.2%), ocular disease (44.3%, 95% CI: 40.5-48.2%) and venous thromboembolism (41.8%, 95% CI: 38.3-45.4%) were also common. Myelodysplastic syndrome occurred in 35.8% (95% CI: 32.3-39.4%) of patients. Previously under-recognized manifestations included significant respiratory involvement and a broad spectrum of vascular complications. Rare but clinically significant features included cardiac involvement (7.6%), renal disease (7.0%) and CNS manifestations (7.8%).
conclusionThis systematic review provides the most comprehensive characterization of VEXAS syndrome to date, establishing robust prevalence estimates across all organ systems and identifying rare manifestations with important clinical implications. These findings will facilitate earlier diagnosis, inform monitoring strategies and guide future research priorities.
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