VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic): clinical review in a rapidly emerging field

Abstract

VEXAS syndrome is a recently described entity characterized by systemic inflammatory and hematologic manifestations. The disease was first characterized by Beck et al. in 2020 in a study characterizing 25 patients with undiagnosed adult-onset inflammatory syndromes. While the literature regarding VEXAS syndrome has grown exponentially since 2020, there is still much to be understood. This lack of information leads to challenges in both the diagnosis and treatment of patients with VEXAS syndrome. Patients will often have a variety of clinical symptoms that can lead to missed or delayed diagnoses. Additionally, awareness of VEXAS syndrome is still developing among clinicians. In this comprehensive review, we summarize the current literature regarding VEXAS syndrome, and explore clinical updates of this emerging disease state. Our aim of this review is to increase awareness regarding this new disease state and identify research areas to better understand future treatment approaches for patients with VEXAS syndrome.

Keywords:

• VEXAS
• autoinflammatory
• UBA1

Disclosure statement

NP: Consulting/honorarium: AbbVie; Celgene; Stemline; Incyte; Novartis; MustangBio; Roche Diagnostics, LFB, Sanofi, ImmunoGen; Research funding/clinical trials support: Stemline; Novartis; AbbVie; Samus; Cellectis; Plexxikon; Daiichi-Sankyo; Affymetrix; Grants/funding: Affymetrix, Sager Strong Foundation.

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This study was supported in part by the MD Anderson Cancer Centre Support Grant (CCSG) CA016672, the MD Anderson Cancer Center Leukemia SPORE CA100632. EMG is supported by the intramural program of the National Heart, Lung and Blood Institute. Figures created on Biorender.com.