VEXAS SYNDROME – A NEW CHALLENGE AT THE INTERFACE OF RHEUMATOLOGY AND HEMATOLOGY: A REVIEW PAPER

• Published in: International Journal of Innovative Technologies in Social Science Vol. 3; no. 3(47)
• Main Authors: Joanna Kłosowska, Piotr Świerczek, Małgorzata Zach, Karolina Błądzińska, Maciej Błądziński, Kacper Szeląg, Antoni Kujawski, Paula Folta, Anna Opalińska, Cezary Lubas
• Format: Journal Article
• Language: English
• Published: 16.09.2025
• ISSN: 2544-9338; 2544-9435
• DOI: 10.31435/ijitss.3(47).2025.3834

Research Objectives: This review summarizes current knowledge on VEXAS syndrome—its genetics, pathophysiology, symptoms, diagnosis, treatment, and prognosis—highlighting its clinical relevance. Methods: A focused literature review was conducted using PubMed and Google Scholar, emphasizing recent studies and relevant keywords related to VEXAS syndrome. Key Findings: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a newly identified, rare autoinflammatory disease caused by a somatic mutation in the UBA1 gene. It occurs almost exclusively in men and combines treatment-resistant inflammatory symptoms with bone marrow dysplasia, posing diagnostic and therapeutic challenges. VEXAS has a non-specific clinical course, combining symptoms of autoinflammatory diseases (e.g., chondritis, fever, vasculitis) with hematologic features such as cytopenias, macrocytosis, and myelodysplastic syndromes (MDS). Diagnosis is often delayed and requires high clinical suspicion and genetic testing of bone marrow to detect UBA1 mutations. There are no standardized treatment protocols; therapy usually includes glucocorticosteroids, immunosuppressants, and targeted agents. Allogeneic bone marrow transplantation may be an option in selected patients. Conclusions: VEXAS syndrome lies at the intersection of rheumatology and hematology. Though recently discovered, its clinical importance is growing. Diagnosis demands a multidisciplinary approach and molecular testing. Further studies and patient registries are essential to improve care and understanding of the disease.