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VEXAS Syndrome

Ke Xu,1,2* Carolyn Maharaj1

1Department of Haematology; 2Specialist Integrated Haematology Malignancy Diagnostic Service, Health Services Laboratories, University College London Hospitals NHS Foundation Trust, University College London, London, UK.

*Correspondence:

Ke Xu, Department of Haematology, University College London Hospitals NHS Foundation Trust, 250 Euston Road, London NW1 2PG, UK. Phone: (+44) 02034567890, Email: Ke.xu@nhs.net.

 

An 83-year-old man presented with macrocytic anaemia, vasculitis-appearing skin rash, Sweet syndrome and unprovoked subclavian deep venous thrombosis (DVT). A complete blood count showed Hgb 102 g/L, MCV 117 fL, WBC 3.6 x 109/L, neutrophil 2.5 x 109/L, and platelet 160 x 109/L. Bone marrow aspirate showed cytoplasmic vacuoles in myeloid and erythroid precursor cells. There was no excess of blasts. Some dysplastic neutrophils with abnormal nuclear lobation including hypo-lobation were present. These morphological findings raised the diagnostic consideration of vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic (VEXAS) syndrome. Next generation sequencing (NGS) testing identified pathogenic variant UBA1 p.Met41Val [variant allele frequency (VAF) 72%], confirming the diagnosis of VEXAS syndrome. Trephine biopsy sample was hypercellular with no evidence of increased blasts, lymphoma or plasma cell neoplasm. The patient was treated with rivaroxaban, prednisolone and azacytidine with resolution of symptoms and full recovery of blood count

VEXAS syndrome is an adult-onset autoinflammatory disease. It is caused by somatic mutation in UBA1 gene [1]. This case highlights the importance of identifying VEXAS syndrome-related bone marrow morphology and testing for UBA1 mutation.

Bone marrow aspirate showing vacuolation in maturing myeloid and erythroid precursor cells
Figure 1: Bone marrow aspirate showing vacuolation in maturing myeloid and erythroid precursor cells (May-Gr├╝nwald-Giemsa stain x 600 magnification).

Acknowledgments

The authors received no financial support for the research, authorship, and publication of this article. The authors have no conflict of interest.

References

  1. Beck DB, Ferrada MA, Sikora KA, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. New Engl J Med. 2020; 383(27): 2628-2638.