| Title: |
Further characterization of clinical and laboratory features occurring in VEXAS syndrome in a large-scale analysis of multicenter case-series of 116 French patients. |
| Authors: |
Georgin-Lavialle, S.; Terrier, B.; Guedon, A. F.; Heiblig, M.; Comont, T.; Lazaro, E.; Lacombe, V.; Terriou, Louis; Ardois, S.; Bouaziz, J. D.; Mathian, A.; Le Guenno, G.; Aouba, A.; Outh, R.; Meyer, A.; Roux-Sauvat, M.; Ebbo, M.; Zhao, L. P.; Bigot, A.; Jamilloux, Y.; Guillotin, V.; Flamarion, E.; Henneton, P.; Vial, G.; Jachiet, V.; Rossignol, J.; Vinzio, S.; Weitten, T.; Vinit, J.; Deligny, C.; Humbert, S.; Samson, M.; Magy-Bertrand, N.; Moulinet, T.; Bourguiba, R.; Hanslik, T.; Bachmeyer, C.; Sebert, M.; Kostine, M.; Bienvenu, B.; Biscay, P.; Liozon, E.; Sailler, L.; Chasset, F.; Audemard-Verger, A.; Duroyon, E.; Sarrabay, G.; Borlot, F.; Dieval, C.; Cluzeau, T.; Marianetti, P.; Lobbes, H.; Boursier, G.; Gerfaud-Valentin, M.; Jeannel, J.; Servettaz, A.; Audia, S.; Larue, M.; Henriot, B.; Faucher, B.; Graveleau, J.; De Sainte Marie, B.; Galland, J.; Bouillet, L.; Arnaud, C.; Ades, L.; Carrat, F.; Hirsch, P.; Fenaux, P.; Fain, O.; Sujobert, P.; Kosmider, O.; Mekinian, A. |
| Contributors: |
Université de Lille; Inserm; CHU Lille; Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses CH Versailles CeRéMAIA - Hôpital André Mignot; CHU Tenon AP-HP; Hôpital Cochin AP-HP; Institut Pierre Louis d'Epidémiologie et de Santé Publique iPLESP; CHU Saint-Antoine AP-HP; Service d’Hématologie Centre Hospitalier Lyon Sud - HCL; Centre Hospitalier Universitaire de Toulouse CHU Toulouse; CHU Bordeaux; Université d'Angers UA; Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286; Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou; Hopital Saint-Louis AP-HP AP-HP; Génomes, biologie cellulaire et thérapeutiques GenCellDis (U944 / UMR7212); CHU Pitié-Salpêtrière AP-HP; CHU Clermont-Ferrand; Service de médecine interne CHU Caen; Centre Hospitalier Saint Jean de Perpignan; Centre Hospitalier Universitaire Strasbourg CHU Strasbourg; Hôpital de la Timone CHU - APHM TIMONE; Centre Hospitalier Régional Universitaire de Tours CHRU Tours; Hôpital de la Croix-Rousse CHU - HCL; Centre Hospitalier Régional Universitaire Montpellier CHRU Montpellier; Hôpital Necker - Enfants Malades AP-HP; Groupe Hospitalier Mutualiste Grenoble GHM; Centre Hospitalier Intercommunal des Alpes du Sud chicas; Centre Hospitalier Chalon-sur-Saône William Morey; CHU de la Martinique Fort de France; Centre Hospitalier Régional Universitaire de Besançon CHRU Besançon; Service de médecine interne et immunologie clinique (SOC 1) CHU de Dijon; Service de Médecine Interne et Médecine Générale CHRU Nancy; Ingénierie Moléculaire et Physiopathologie Articulaire IMoPA; Hôpital Ambroise Paré AP-HP; Groupe de recherche clinique Amylose AA Sorbonne Université GRC 28 - GRAASU; Hôpital Saint-Joseph Marseille |
| Publication Year: |
2024 |
| Collection: |
LillOA (Lille Open Archive - Université de Lille) |
| Description: |
Background A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome (‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’). Objectives To describe clinical characteristics, laboratory findings and outcomes of VEXAS syndrome. Methods One hundred and sixteen patients with VEXAS syndrome were referred to a French multicentre registry between November 2020 and May 2021. The frequency and median of parameters and vital status, from diagnosis to the end of the follow‐up, were recorded. Results The main clinical features of VEXAS syndrome were found to be skin lesions (83%), noninfectious fever (64%), weight loss (62%), lung involvement (50%), ocular symptoms (39%), relapsing chondritis (36%), venous thrombosis (35%), lymph nodes (34%) and arthralgia (27%). Haematological disease was present in 58 cases (50%): myelodysplastic syndrome (MDS; n = 58) and monoclonal gammopathy of unknown significance (n = 12; all patients with MGUS also have a MDS). UBA1 mutations included p.M41T (45%), p.M41V (30%), p.M41L (18%) and splice mutations (7%). After a median follow‐up of 3 years, 18 patients died (15·5%; nine of infection and three due to MDS progression). Unsupervised analysis identified three clusters: cluster 1 (47%; mild‐to‐moderate disease); cluster 2 (16%; underlying MDS and higher mortality rates); and cluster 3 (37%; constitutional manifestations, higher C‐reactive protein levels and less frequent chondritis). The 5‐year probability of survival was 84·2% in cluster 1, 50·5% in cluster 2 and 89·6% in cluster 3. The UBA1 p.Met41Leu mutation was associated with a better prognosis. Conclusions VEXAS syndrome has a large spectrum of organ manifestations and shows different clinical and prognostic profiles. It also raises a potential impact of the identified UBA1 mutation. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/octet-stream |
| Language: |
English |
| Relation: |
British Journal of Dermatology; Br J Dermatol; http://hdl.handle.net/20.500.12210/101051 |
| Availability: |
https://hdl.handle.net/20.500.12210/101051 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.169889D1 |
| Database: |
BASE |