Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients

• Published in: Rheumatic & musculoskeletal diseases open Vol. 8; no. 2; p. e002255
• Main Authors: Khitri, Mohamed-Yacine, Guedon, Alexis F, Georgin-Lavialle, Sophie, Terrier, Benjamin, Saadoun, David, Seguier, Julie, le Besnerais, Maelle, De Moreuil, Claire, Denis, Guillaume, Gerfaud-Valentin, Mathieu, Allain, Jean Sebastien, Maria, Alexandre, Bouillet, Laurence, Grobost, Vincent, Galland, Joris, Kosmider, Olivier, Dumont, Anael, Devaux, Mathilde, Subran, Benjamin, Schmidt, Jean, Marianetti-Guingel, Paola, Audia, Sylvain, Palat, Sylvain, Roux-Sauvat, Marielle, Jachiet, Vincent, Hirsch, Pierre, Fain, Olivier, Mekinian, Arsène
• Format: Journal Article
• Language: English
• Published: London EULAR 01.07.2022; BMJ Publishing Group LTD; BMJ; BMJ Publishing Group
• Series: Original research
• Subjects: Adult; Autoimmune diseases; Autoinflammatory Disorders; Bone marrow; Cohort Studies; Disease; Drug dosages; Ears & hearing; Enzymes; Female; Fever; Genotype & phenotype; Glucocorticoids; Humans; Immunology; Inflammation; Laboratories; Life Sciences; Male; Mutation; Myelodysplastic Syndromes; Nervous system; Patients; Polychondritis, Relapsing; Relapsing Polychondritis; Remission (Medicine); Retrospective Studies; Somatic Mutations in; Steroids; Thrombosis; VEXAS syndrome; Somatic Mutations inUBA1; VEXAS syndrome; Relapsing Polychondritis
• ISSN: 2056-5933; 2056-5933
• DOI: 10.1136/rmdopen-2022-002255

ObjectiveA 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).MethodsPatients from French retrospective multicentre cohort of RP were separated into two groups: a VEXAS-RP and an I-RP.ResultsCompared with patients with I-RP (n=40), patients with VEXAS-RP (n=55) were men (96% vs 30%, p<0.001) and were older at diagnosis (66 vs 44 years, p<0.001). They had a greater prevalence of fever (60% vs 10%, p<0.001), of skin lesions (82% vs 20%, p<0.001), of ocular involvement (57% vs 28%, p=0.01), of pulmonary infiltrates (46% vs 0%, p<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<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<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<0.05).ConclusionWe 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.