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Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome Presenting With Bicytopenia and Vasculitis

Year: 2025

Type: article

Abstract: Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic (VEXAS) syndrome is a recently described autoinflammatory condition caused by somatic mutations in the UBA1 gene, typically affecting adult males. Typical clinical features include systemic inflammation, hematologic abnormalities, and various cutaneous manifestations. Due to its recent recognition, the disease poses significant diagnostic and therapeutic challenges. We report the case of a 56-year-old man who presented with recurrent fever, skin lesions consistent with leukocytoclastic vasculitis, macrocytic anemia, and thrombocytopenia. Bone marrow examination revealed dysplastic features and foamy macrophages. Given the suspicion of an autoinflammatory disease, molecular testing using next-generation sequencing was requested, and a somatic mutation in UBA1 was confirmed. This case highlights the importance of considering VEXAS in patients with unexplained systemic inflammation and hematologic abnormalities, and underscores the utility of genetic testing in reaching a definitive diagnosis.

Source: Cureus

DOI: 10.7759/cureus.88083

Authors: José Monge, Kimberly Miranda

Institution: Universidad de Costa Rica

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: W4412478738