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Review
. 2024 Jan 27;16(1):e53041.
doi: 10.7759/cureus.53041. eCollection 2024 Jan.

Clinical Manifestations in Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome: A Narrative Review

Vlad Padureanu  1 , Cristian Marius Marinaș  2 , Anca Bobirca  3 , Rodica Padureanu  4 , Stefan Patrascu  5 , Ana Maria Dascalu  6 , Florin Bobirca  7 , Laura Tribus  8 , Cristina Alexandru  3 , Crenguta Serboiu  9 , Catalin Dumitrascu  3 , Anca Musetescu  10
Affiliations
Review

Clinical Manifestations in Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome: A Narrative Review

Vlad Padureanu et al. Cureus. .

Abstract

The newly identified refractory adult-onset autoinflammatory syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is brought on by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells that change the expression of the UBA1 isoform. As a result, patients have a variety of hematologic and systemic inflammatory symptoms. All types of medical professionals should treat VEXAS syndrome seriously due to the high fatality rate. To better comprehend the condition and enhance the prognosis for VEXAS syndrome, this review article describes the essential traits and clinical signs of the condition. The discussion of future directions in the study of systemic inflammatory disorders brought on by somatic mutations concludes.

Keywords: clinical manifestations; diagnose; recognize; syndrome; vexas.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Clinical manifestations in VEXAS
Figure created by the authors in BioRender.com VEXAS: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic
See this image and copyright information in PMC

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