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. 2025 Aug 11.
doi: 10.1002/art.43287. Online ahead of print.

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arsene M Mekinian  1 , Sophie Georgin-Lavaille  2 , Marcela A Ferrada  3 , Sinisa Savic  4   5 , Matthew J Koster  6 , Olivier Kosmider  7   8 , Thibault Comont  9 , Mael Heilblig  10 , Juan I Arostegui  11   12   13 , Annmarie Bosco  14   15   16 , Rim Bourguiba  17   18 , Katherine R Calvo  19 , Catherine Cargo  20 , Chiara Cattaneo  21 , François Chasset  22 , Henrique Coelho  23 , Corrado Campochiaro  24 , Francesca Crisafulli  21 , Stephanie Ducharme-Benard  25 , Raquel Faria  26   27   28 , Franco Franceschini  29 , Micol Frassi  29 , Emma M Groarke  30 , Carmelo Gurnari  31   32 , Yervand Hakobyan  33 , Yvan Jamilloux  34 , Ciprian Jurcut  35 , Yohei Kirino  36 , Austin Kulasekararaj  37 , Hiroyoshi Kunimoto  36 , Lauren M Madigan  38 , Heřman F Mann  39 , Chiara Marvisi  40   41 , Marcin Milchert  42 , Sara Morais  43 , Katja Sockel  44   45 , Francesco Muratore  46 , Hideaki Nakajima  36 , Mrinal M Patnaik  47 , Luísa Regadas  48 , Marie Robin  49 , Abraham Rutgers  50 , Carlo Salvarani  46 , Anthony M Sammel  16   51 , Joerg Seebach  52 , Pierre Sujobert  53 , Alessandro Tomelleri  24 , Geoffrey Urbanski  54   55 , Frédéric Vandergheynst  56 , Romana Vieira  57 , David S Viswanatha  58 , Ewa Więsik-Szewczyk  59 , Elisa Diral  60 , Benjamin Terrier  61 , Bhavisha A Patel  30 , Pierre Fenaux  62 , Peter C Grayson  63 , David B Beck  64   65 ; International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases
Collaborators, Affiliations

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arsene M Mekinian et al. Arthritis Rheumatol. .

Abstract

Objective: Vacuoles E1 enzyme X-linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.

Methods: Given the variability in disease presentation and the limited number of studies to date, no clinical documents currently exist to provide guidance to health care providers about the management of VEXAS. To address this gap, we formed an international multidisciplinary panel of VEXAS experts.

Results: Through formalized meetings and a voting process, the group developed consensus clinical guidance considerations for the management of VEXAS. These considerations offer practical advice on several key topics: (1) clinical features of VEXAS, (2) UBA1 screening methods, (3) the diagnosis of myelodysplastic syndromes (MDSs) in patients with VEXAS, and (4) prognosis and management. The aim is to provide expert guidance on which patients to test, how to test for VEXAS, how to approach MDS in the context of VEXAS, and considerations for management.

Conclusion: This work marks the first formal international consensus guidance for VEXAS and is intended to be used as a resource for clinicians seeking to understand the disease and its management.

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References

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