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CASE REPORT article

Front. Hematol.
Sec. Blood Cancer
Volume 3 - 2024 | doi: 10.3389/frhem.2024.1480436

VEXAS Syndrome and Literature Review

Provisionally accepted
Can Jones Can Jones 1,2*Stanislav Ivanov Stanislav Ivanov 3Souhad Younes Souhad Younes 1,2Hugo Fernandez Hugo Fernandez 3
  • 1 Memorial Healthcare System, Hollywood, Florida, United States
  • 2 Cancer Institute, Memorial Healthcare System, Hollywood, Florida, United States
  • 3 Moffitt Malignant Hematology & Cellular Therapy at Memorial Healthcare System, Pembroke Pines, United States

The final, formatted version of the article will be published soon.

    VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene. They usually have systemic inflammation and present with a combination of hematologic and rheumatologic abnormalities such as myelodysplastic syndrome and polychondritis. VEXAS syndrome patients are at increased risk of developing hematologic malignancies. We present a case of a 60-year-old male who developed transfusion-dependent macrocytic anemia, was found to have UBA1 mutation in the bone marrow, and was diagnosed with VEXAS syndrome. The patient responded well to steroid treatment and did not require more blood transfusion. The two main goals of treating VEXAS syndrome are eradicating the UBA1 mutated hematopoietic cells and inhibiting the inflammatory process. Early stem cell transplant evaluation is necessary as VEXAS-related complications may limit the efficacy of transplantation. Further research is required to improve the prognosis and quality of life of VEXAS syndrome patients.

    Keywords: VEXAS, myelodysplastic syndrome, UBA1 mutation, Inflammation, Bone Marrow Transplant

    Received: 14 Aug 2024; Accepted: 09 Oct 2024.

    Copyright: © 2024 Jones, Ivanov, Younes and Fernandez. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Can Jones, Memorial Healthcare System, Hollywood, 33021, Florida, United States

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