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Updated: May 15, 2026
06:39
Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Systemic inflammation with myelodysplastic features: VEXAS syndrome
Mohamed M Khamis1, Iqra M Bhatti2, Deepthi Busayavalasa3
1Internal Medicine, Mercy Hospital St. Louis, St. Louis, Missouri, USA MOHAMED.KHAMIS@mercy.net.
BMJ Case Reports
|May 13, 2026
Summary
VEXAS syndrome, a condition in older men, presents with inflammation and blood count issues. Early molecular testing and combined therapies are crucial for managing this rare autoinflammatory disorder.
Area of Science:
- Hematology
- Immunology
- Genetics
Background:
- Older men can present with complex symptoms including anemia, inflammation, and features resembling giant cell arteritis.
- Refractory inflammation and cytopenias despite standard treatments necessitate exploring rarer underlying conditions.
Purpose of the Study:
- To report a case of VEXAS syndrome in an elderly male.
- To highlight diagnostic challenges and effective management strategies for VEXAS syndrome.
Main Methods:
- Clinical presentation analysis of an 80s male with refractory anemia and inflammation.
- Targeted gene sequencing to identify somatic mutations.
- Treatment response assessment with ruxolitinib and azacitidine.
Main Results:
- A somatic UBA1 p.Met41Thr mutation was identified, confirming VEXAS syndrome.
- Ruxolitinib and azacitidine stabilized inflammatory markers and allowed steroid reduction.
- While treatment improved systemic symptoms, transfusion-dependent anemia persisted.
Conclusions:
- VEXAS syndrome should be suspected in older men with overlapping vasculitic and myelodysplastic features.
- Molecular testing is vital for diagnosing VEXAS, even with subtle bone marrow vacuoles.
- Multidisciplinary care integrating immunomodulators and clonal-directed therapies is essential for optimal VEXAS management.
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