Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients - PubMed (original) (raw)

Multicenter Study

. 2022 Mar;186(3):564-574.

doi: 10.1111/bjd.20805. Epub 2021 Nov 28.

B Terrier 2, A F Guedon 3, M Heiblig 4, T Comont 5, E Lazaro 6, V Lacombe 7, L Terriou 8, S Ardois 9, J-D Bouaziz 10, A Mathian 11, G Le Guenno 12 13, A Aouba 14, R Outh 15, A Meyer 16, M Roux-Sauvat 17, M Ebbo 18, L P Zhao 19, A Bigot 20, Y Jamilloux 21, V Guillotin 12 13, E Flamarion 22, P Henneton 23, G Vial 12 13, V Jachiet 24, J Rossignol 25, S Vinzio 26, T Weitten 27, J Vinit 28, C Deligny 29, S Humbert 30, M Samson 31, N Magy-Bertrand 30, T Moulinet 32, R Bourguiba 1, T Hanslik 33, C Bachmeyer 1, M Sebert 19, M Kostine 34, B Bienvenu 35, P Biscay 36, E Liozon 37, L Sailler 38, F Chasset 39, A Audemard-Verger 20, E Duroyon 40, G Sarrabay 41, F Borlot 42, C Dieval 43, T Cluzeau 44, P Marianetti 45, H Lobbes 12 13, G Boursier 41, M Gerfaud-Valentin 4, J Jeannel 22, A Servettaz 45, S Audia 31, M Larue 46, B Henriot 47, B Faucher 18, J Graveleau 48, B de Sainte Marie 12 13, J Galland 49, L Bouillet 26, C Arnaud 38, L Ades 19, F Carrat 3, P Hirsch 50, P Fenaux 19, O Fain 24, P Sujobert 30, O Kosmider 40, A Mekinian 24; French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON

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Multicenter Study

Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients

S Georgin-Lavialle et al. Br J Dermatol. 2022 Mar.

Free article

Abstract

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.

© 2021 British Association of Dermatologists.

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References

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