Kanupriya BECTOR, Ankur PUNIA, Shweta BANSAL, Sapna YADAV, Priyanka CHOUDHARY, Suchita VERMA, Omkar Kalidasrao CHOUDHARI, Ajay YADAV, Satyajeet SONI, Naveen GUPTA, Hemant MALHOTRA
Background: VEXAS syndrome is caused by a somatic mutation in the UBA1 gene, required for the ubiquitination of proteins. Patients may present with an array of complications, which may be associated with autoimmune disease, clonal hematopoiesis or monoclonal gammopathy, along with systemic inflammation.
Case report: We report a case of a 44-year-old male, who was initially diagnosed with autoimmune disease, found to have myelodysplastic syndrome/myeloproliferative syndrome (MDS/MPN) on work up, and on further evaluation, revealed a UBA1 mutation on next-generation sequencing to establish the diagnosis of VEXAS syndrome. The patient was treated with azacitidine and corticosteroids, resulting in complete resolution of symptoms.
Conclusion: Persistent inflammation in VEXAS syndrome may lead to a range of complications. Timely diagnosis is of utmost importance as mortality associated with the syndrome complications is very high.
Keywords: Myelodysplastic syndrome, VEXAS syndrome, inflammation, UBA1 mutation, bone marrow transplant
https://doi.org/10.59854/dhrrh.2026.4.3.127
Cite this article
Bector K., Punia A., Bansal S., Yadav S., Choudhary P., Verma S., Choudhari O.K., Yadav A., Soni S., Gupta N., Malhotra H., Unmasking VEXAS Syndrome: A Diagnostic Dilemma. DHRRH, 2026, 6(2), https://doi.org/10.59854/dhrrh.2026.4.3.127
