A Case of VEXAS Syndrome. WMJ 2025;124(5):496-499
Date
01/07/2026Pubmed ID
41499626Scopus ID
2-s2.0-105026939380 (requires institutional sign-in at Scopus site)Abstract
INTRODUCTION: EXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a rare disease caused by somatic mutations in the UBA1 gene, first identified in 2020. Prevalence is unclear, and there are no established treatment guidelines, highlighting the need for disease recognition.
CASE PRESENTATION: We report the case of a 34-year-old African American man with a prior diagnosis of rheumatoid arthritis who developed migratory arthritis, pustular acne, and hidradenitis suppurativa. Despite suggestive clinical features, delayed access to biologic therapy contributed to disease progression and resulted in hospitalization. After extensive genetic and clinical evaluation, he was diagnosed with PAPASH syndrome.
DISCUSSION: VEXAS syndrome results from dysregulation in the ubiquitylation pathway, causing autoinflammatory and hematologic symptoms. Diagnosis is challenging due to variable presentation. Bone marrow biopsy and genomic testing for UBA1 mutation are crucial for diagnosis. Treatment focuses on controlling inflammation with steroids and IL-6 receptor antagonists such as tocilizumab.
CONCLUSIONS: We present this case to raise awareness of this recently established condition. Further understanding will aid in optimizing management and improving clinical outcomes.
Author List
Analytis S, Kothari T, Wagle J, Thao K, Ozcerkirdek E, Ahmed R, Huether S, Krueziger LB, Hutchison B, Jha PAuthors
Stephanie Analytis DO Assistant Professor in the Medicine department at Medical College of WisconsinPinky Jha MBBS, MPH Associate Professor in the Medicine department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
AdultHereditary Autoinflammatory Diseases
Hidradenitis Suppurativa
Humans
Male
Myelodysplastic Syndromes
Skin Diseases, Genetic
Ubiquitin-Activating Enzymes
