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Review
. 2025 Feb;75(2):196-200.

[VEXAS Syndrome]

[Article in French]
Vincent Jachiet  1 , Thibault Comont  2 , Olivier Kosmider  3 , Lin Pierre Zhao  4 , Arsène Mekinian  1 , Olivier Fain  1 , Jérome Hadjadj  1
Affiliations
  • PMID: 40476413
Review

[VEXAS Syndrome]

[Article in French]
Vincent Jachiet et al. Rev Prat. 2025 Feb.

Abstract
in English, French

VEXAS SYNDROME. VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men above 50 years, caused by somatic mutation in the X-linked UBA1 gene. Patients present a broad spectrum of inflammatory manifestations (fever, neutrophilic dermatosis, chondritis, pulmonary infiltrates, ocular inflammation, venous thrombosis) with hematological involvement (macrocytic anemia, thrombocytopenia, vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow) which are responsible for significant morbidity and mortality. The therapeutic management is currently poorly codified, and based on two main approaches: controlling inflammatory symptoms by using corticosteroids, JAK inhibitors or tocilizumab, or targeting the UBA1-mutated hematopoietic population using azacitidine or allogeneic hematopoietic stem cell transplantation.

SYNDROME VEXAS. Le syndrome VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) est un syndrome auto-inflammatoire acquis de découverte récente, touchant essentiellement les hommes de plus de 50 ans, causé par des mutations somatiques du gène UBA1, situé sur le chromosome X. Les patients présentent un spectre large de manifestations inflammatoires (fièvre, dermatose neutrophilique, chondrite, infiltrats pulmonaires, inflammation oculaire, thromboses) et une atteinte hématologique (anémie macrocytaire, thrombocytopénie, vacuoles dans les précurseurs médullaires et dysmyélopoïèse) responsables d’une morbidité et mortalité significatives. La prise en charge thérapeutique est actuellement mal codifiée et repose sur deux principales approches : traitement des manifestations inflammatoires par corticoïdes, inhibiteurs de JAK, tocilizumab, ou ciblage du clone hématopoïétique par l’azacitidine ou l’allogreffe de cellules souches hématopoïétiques.

Keywords: Somatic Hypermutation; Vacuoles; X Chromosome.

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Conflict of interest statement

Les auteurs déclarent n’avoir aucun lien d’intérêts.

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