VEXAS: where do we stand 2 years later?

Curr Opin Hematol. 2023 Mar 1;30(2):64-69. doi: 10.1097/MOH.0000000000000750. Epub 2022 Dec 30.

Abstract

Purpose of review: Two years after the recognition of VEXAS (for Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, we propose an extensive review of the current understanding of VEXAS pathophysiology and therapeutic options.

Recent findings: Among the nearly 150 articles published about VEXAS, some have provided determinant insights into VEXAS pathophysiology and treatment. Clinical data from retrospective series support the JAK inhibitor ruxolitinib as the most efficient strategy to control inflammation, and interesting results were also described with azacytidine. Allogeneic stem cell transplantation remains the only curative option, but should be proposed to carefully selected patients.

Summary: Although waiting for more robust evidence from prospective clinical trials, therapeutic options emerge from retrospective studies. We propose a set of criteria that should be systematically reported to harmonize the evaluation of therapeutic outcomes. This will allow the collection of high-quality data and facilitate their subsequent meta-analysis with the overall aim of improving the management of VEXAS patients.

Publication types

  • Review

MeSH terms

  • Azacitidine*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Mutation
  • Myelodysplastic Syndromes
  • Prospective Studies
  • Retrospective Studies
  • Skin Diseases, Genetic

Substances

  • Azacitidine

Supplementary concepts

  • VEXAS syndrome