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Case Reports: Rare disease
VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome
  1. Karun Neupane1,2,
  2. Apoorva Jayarangaiah3,
  3. Yan Zhang4 and
  4. Abishek Kumar3
  1. 1Internal Medicine, Albert Einstein College of Medicine, Bronx, New York, USA
  2. 2Internal Medicine, Jacobi Medical Center, Bronx, New York, USA
  3. 3Department of Hematology and Oncology, Jacobi Medical Center, Bronx, New York, USA
  4. 4Department of Pathology, Jacobi Medical Center, Bronx, New York, USA
  1. Correspondence to Dr Karun Neupane; krn.neupane49{at}gmail.com

Abstract

VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic) syndrome is a novel inflammatory syndrome that was first described in December 2020. Patients with VEXAS syndrome have a somatic mutation in the UBA1 gene, inflammatory conditions and usually haematological conditions. Haematological conditions reported in patients with VEXAS syndrome include myelodysplastic syndrome (MDS), clonal cytopenia of undetermined significance, plasma cell neoplasm including multiple myeloma/monoclonal gammopathy of undetermined significance, haemophagocytic lymphohistiocytosis and monoclonal B-cell lymphocytosis. Here we describe a patient with VEXAS syndrome who had a progression of MDS to MDS/myeloproliferative neoplasm overlap syndrome. The ocular findings so far reported in these patients include episcleritis, uveitis, blepharitis and orbital cellulitis. Here we report retinal detachment as a clinical feature of VEXAS syndrome. This finding has a significant implication in patient management as it warrants higher vigilance for this sight-threatening complication.

  • Haematology (incl blood transfusion)
  • Oncology
  • Rheumatology

http://dx.doi.org/10.1136/bcr-2022-251089

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    Footnotes

    • Twitter @KarunNep

    • Contributors KN and AK chose the topic. KN, AK and YZ wrote the manuscript. AJ and YZ collected the clinical images. All the authors reviewed and edited the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.