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CASE REPORT article

Front. Hematol.
Sec. Blood Cancer
Volume 3 - 2024 | doi: 10.3389/frhem.2024.1501337

VEXAS Syndrome: First Documented Cases in Latin America

Provisionally accepted
Carolina Ottati Carolina Ottati 1Inés Gervaz Inés Gervaz 1,2Martín Yandian Martín Yandian 3,4Matilde Boada Matilde Boada 1,2Gabriela Vidal- Senmache Gabriela Vidal- Senmache 5Percy Ortiz-Guerra Percy Ortiz-Guerra 6Ana I Catalán Ana I Catalán 1Patricia Kutscher Patricia Kutscher 7Diego Lopez Diego Lopez 7Lilian Diaz Lilian Diaz 4Sofía Grille Sofía Grille 1,2*
  • 1 Laboratorio de Citometría y Biología Molecular. Departamento Básico de Medicina. Hospital de Clínicas, Universidad de la República, Montevideo. Uruguay, Montevideo, Uruguay
  • 2 Unidad Académica de Hematología. Hospital de Clínicas. Facultad de Medicina. Universidad de la Republica, Montevideo, Uruguay
  • 3 Unidad Académica Médica A. Hospital de Clínicas. Facultad de Medicina. Universidad de la Republica., Montevideo, Uruguay
  • 4 Médica Uruguaya (MUCAM), Montevideo, Uruguay
  • 5 Servicio de Hematología Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru
  • 6 Servicio de Hematología y Banco de órganos. Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru
  • 7 Unidad Académica de Dermatología. Hospital de Clínicas. Facultad de Medicina. Universidad de la Republica, Montevideo, Uruguay

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

    Introduction: VEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene. Predominantly affecting adult males, it is characterized by a wide range of autoinflammatory symptoms and hematologic abnormalities. Methods: We present three cases from Latin America, marking the first reported occurrences in this region, to illustrate the clinical variability and diagnostic challenges of VEXAS syndrome.Results: Each patient exhibited unique clinical presentations, including refractory autoinflammatory symptoms, myelodysplastic syndrome, and bone marrow vacuolization. All cases were confirmed via genetic testing, revealing pathogenic UBA1 mutations alongside other genetic variants commonly linked with myeloid neoplasms.Discussion: These findings underscore the importance of considering VEXAS syndrome in patients with unexplained inflammatory and hematologic symptoms. The coexistence of UBA1 mutations with other genetic variants suggests a potential overlap with clonal hematopoiesis, complicating the clinical picture. These cases contribute to the understanding of VEXAS syndrome and highlight the need for increased awareness and diagnostic testing in diverse populations to ensure early and accurate diagnosis.

    Keywords: VEXAS syndrome, myelodysplastic syndrome, diagnosis, Management, Latin America

    Received: 24 Sep 2024; Accepted: 23 Dec 2024.

    Copyright: © 2024 Ottati, Gervaz, Yandian, Boada, Vidal- Senmache, Ortiz-Guerra, Catalán, Kutscher, Lopez, Diaz and Grille. 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: Sofía Grille, Laboratorio de Citometría y Biología Molecular. Departamento Básico de Medicina. Hospital de Clínicas, Universidad de la República, Montevideo. Uruguay, Montevideo, Uruguay

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