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                <title level="j">RMD Open : Rheumatic &amp; Musculoskeletal Diseases</title>
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                <term xml:lang="en">Relapsing Polychondritis</term>
                <term xml:lang="en">Somatic Mutations inUBA1</term>
                <term xml:lang="en">VEXAS syndrome</term>
                <term xml:lang="en">Relapsing Polychondritis</term>
              </keywords>
              <classCode scheme="mesh">Adult</classCode>
              <classCode scheme="mesh">Cohort Studies</classCode>
              <classCode scheme="mesh">Female</classCode>
              <classCode scheme="mesh">Glucocorticoids</classCode>
              <classCode scheme="mesh">Humans</classCode>
              <classCode scheme="mesh">Male</classCode>
              <classCode scheme="mesh">Myelodysplastic Syndromes</classCode>
              <classCode scheme="mesh">Polychondritis, Relapsing</classCode>
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              <p>Objective A new adult-onset autoinflammatory syndrome has been described, named VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic). We aimed to compare the clinical characteristics, the laboratory features and the outcomes between idiopathic-relapsing polychondritis (I-RP) and VEXAS-relapsing polychondritis (VEXAS-RP). Methods Patients from French retrospective multicentre cohort of RP were separated into two groups: a VEXAS-RP and an I-RP. Results Compared with patients with I-RP (n=40), patients with VEXAS-RP (n=55) were men (96% vs 30%, p&lt;0.001) and were older at diagnosis (66 vs 44 years, p&lt;0.001). They had a greater prevalence of fever (60% vs 10%, p&lt;0.001), of skin lesions (82% vs 20%, p&lt;0.001), of ocular involvement (57% vs 28%, p=0.01), of pulmonary infiltrates (46% vs 0%, p&lt;0.001), of heart involvement (11% vs 0%, p=0.0336) and with higher median C-reactive protein levels (64 mg/L vs 10 mg/L, p&lt;0.001). Seventy-five per cent of the patients with VEXAS-RP had myelodysplastic syndrome (MDS) versus none in I-RP group. The glucocorticoids use, and the number of steroid sparing agents were similar in both groups, but patients with VEXAS-RP had more frequent refractory disease (remission obtained in 27% vs 90%, p&lt;0001). VEXAS-RP was associated with higher risk of death: six patients (11%) died in the VEXAS-RP group after a median follow-up of 37 months and none in the I-RP group after a median follow-up of 92 months (p&lt;0.05). Conclusion We report the largest cohort of VEXAS-RP, characterised by high prevalence of male sex, fever, skin lesion, ocular involvement, pulmonary infiltration, heart involvement, older age and MDS association.</p>
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