Work

Unravelling the Puzzle: Highlighting a Case of VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Mimicker Presented With Inflammatory Symptoms and Pancytopenia

Year: 2025

Type: article

Abstract: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory illness that arises due to inactivating mutations in the X-linked UBA1 gene and progresses to impaired ubiquitination, accumulation of misfolded proteins, and activation of numerous inflammatory pathways. Several reactive conditions may mimic the clinical and morphological findings of VEXAS syndrome; therefore, careful differentiation from more common diseases is essential. We present an 82-year-old female who had clinical and morphological features suggestive of VEXAS syndrome; however, a diagnosis of VEXAS syndrome was ruled out since a pathogenic UBA1 gene mutation was not found. Further evaluation established a final diagnosis of megaloblastic anemia with masked macrocytosis, which closely simulated the hematological manifestations of VEXAS syndrome. This case study emphasizes how challenging it is to diagnose VEXAS syndrome mimickers and how crucial it is to do a systematic clinical and laboratory assessment in order to distinguish it from other common illnesses with uncommon presentations.

Source: Cureus

DOI: 10.7759/cureus.94713

Authors: Anurag Singh, Alka Yadav, Ankita Singh

Institution: Sanjay Gandhi Post Graduate Institute of Medical Sciences

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4415264406