Case report: VEXAS syndrome: first documented cases in Latin America

Ottati, Carolina - Gervaz, Inés - Yandian, Martín - Boada, Matilde - Vidal-Senmache, Gabriela - Ortiz-Guerra, Percy - Catalán, Ana I. - Kutscher, Patricia - López, Diego - Díaz, Lilian - Grille, Sofía

Resumen:

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.

Detalles Bibliográficos
2024
VEXAS syndrome
Myelodysplastic syndrome
Diagnosis
Management
Latin AMerica
ENFERMEDADES AUTOINMUNES
ENFERMEDADES HEMATOLÓGICAS
INFLAMACIÓN
GENÉTICA
MUTACIÓN
VACUOLAS
CROMOSOMA X
ENFERMEDADES DEL SISTEMA INMUNE
SISTEMA INMUNOLÓGICO
DIGNÓSTICO
SÍNDROMES MIELODISPLÁSICOS
Inglés
Universidad de la República
COLIBRI
https://hdl.handle.net/20.500.12008/56118
Acceso abierto
Licencia Creative Commons Atribución (CC - By 4.0)
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author Ottati, Carolina
author2 Gervaz, Inés
Yandian, Martín
Boada, Matilde
Vidal-Senmache, Gabriela
Ortiz-Guerra, Percy
Catalán, Ana I.
Kutscher, Patricia
López, Diego
Díaz, Lilian
Grille, Sofía
author2_role author
author
author
author
author
author
author
author
author
author
author_facet Ottati, Carolina
Gervaz, Inés
Yandian, Martín
Boada, Matilde
Vidal-Senmache, Gabriela
Ortiz-Guerra, Percy
Catalán, Ana I.
Kutscher, Patricia
López, Diego
Díaz, Lilian
Grille, Sofía
author_role author
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dc.contributor.filiacion.none.fl_str_mv Ottati Carolina, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular
Gervaz Inés, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de Hematología
Yandian Martín, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas; Médica Uruguaya (Uruguay). Departamento de Hematología
Boada Matilde, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de Hematología
Vidal-Senmache Gabriela, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de Hematología
Ortiz-Guerra Percy, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de Hematología
Catalán Ana I., Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular
Kutscher Patricia, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de Dermatología
López Diego, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de Dermatología
Díaz Lilian, Médica Uruguaya (Uruguay). Departamento de Hematología
Grille Sofía, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de Hematología
dc.coverage.spatial.es.fl_str_mv AMÉRICA LATINA
dc.creator.none.fl_str_mv Ottati, Carolina
Gervaz, Inés
Yandian, Martín
Boada, Matilde
Vidal-Senmache, Gabriela
Ortiz-Guerra, Percy
Catalán, Ana I.
Kutscher, Patricia
López, Diego
Díaz, Lilian
Grille, Sofía
dc.date.accessioned.none.fl_str_mv 2026-07-17T13:46:16Z
dc.date.available.none.fl_str_mv 2026-07-17T13:46:16Z
dc.date.issued.none.fl_str_mv 2024
dc.description.abstract.none.fl_txt_mv 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.
dc.format.extent.es.fl_str_mv 8 p.
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dc.identifier.citation.es.fl_str_mv Ottati C, Gervaz I, Yandian M y otros. Case report: VEXAS syndrome: first documented cases in Latin America. Frontiers in Hematology [en línea. 2024;3]. 8 p.
dc.identifier.doi.none.fl_str_mv 10.3389/frhem.2024.1501337
dc.identifier.eissn.none.fl_str_mv 2813-3935
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12008/56118
dc.language.iso.none.fl_str_mv en
eng
dc.publisher.es.fl_str_mv Frontiers Media
dc.relation.none.fl_str_mv Frontiers in Hematology. 2024;3
dc.rights.license.none.fl_str_mv Licencia Creative Commons Atribución (CC - By 4.0)
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
dc.source.none.fl_str_mv reponame:COLIBRI
instname:Universidad de la República
instacron:Universidad de la República
dc.subject.es.fl_str_mv VEXAS syndrome
Myelodysplastic syndrome
Diagnosis
Management
Latin AMerica
dc.subject.other.es.fl_str_mv ENFERMEDADES AUTOINMUNES
ENFERMEDADES HEMATOLÓGICAS
INFLAMACIÓN
GENÉTICA
MUTACIÓN
VACUOLAS
CROMOSOMA X
ENFERMEDADES DEL SISTEMA INMUNE
SISTEMA INMUNOLÓGICO
DIGNÓSTICO
SÍNDROMES MIELODISPLÁSICOS
dc.title.none.fl_str_mv Case report: VEXAS syndrome: first documented cases in Latin America
dc.type.es.fl_str_mv Artículo
dc.type.none.fl_str_mv info:eu-repo/semantics/article
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
description 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.
eu_rights_str_mv openAccess
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identifier_str_mv Ottati C, Gervaz I, Yandian M y otros. Case report: VEXAS syndrome: first documented cases in Latin America. Frontiers in Hematology [en línea. 2024;3]. 8 p.
10.3389/frhem.2024.1501337
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repository.mail.fl_str_mv karina.camps@seciu.edu.uy
repository.name.fl_str_mv COLIBRI - Universidad de la República
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rights_invalid_str_mv Licencia Creative Commons Atribución (CC - By 4.0)
spelling Ottati Carolina, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología MolecularGervaz Inés, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de HematologíaYandian Martín, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas; Médica Uruguaya (Uruguay). Departamento de HematologíaBoada Matilde, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de HematologíaVidal-Senmache Gabriela, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de HematologíaOrtiz-Guerra Percy, Hospital Nacional Edgardo Rebagliati Martins (Perú). Departamento de HematologíaCatalán Ana I., Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología MolecularKutscher Patricia, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de DermatologíaLópez Diego, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Unidad Académica de DermatologíaDíaz Lilian, Médica Uruguaya (Uruguay). Departamento de HematologíaGrille Sofía, Universidad de la República (Uruguay). Facultad de Medicina. Hospital de Clínicas. Departamento Básico de Medicina. Laboratorio de Citometría y Biología Molecular y Unidad Académica de HematologíaAMÉRICA LATINA2026-07-17T13:46:16Z2026-07-17T13:46:16Z2024Ottati C, Gervaz I, Yandian M y otros. Case report: VEXAS syndrome: first documented cases in Latin America. Frontiers in Hematology [en línea. 2024;3]. 8 p.https://hdl.handle.net/20.500.12008/5611810.3389/frhem.2024.15013372813-3935Introduction: 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.Submitted by Almiñana María Cecilia (marialminana@gmail.com) on 2026-07-16T18:05:14Z No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Case report VEXAS syndrome.pdf: 16134114 bytes, checksum: 42bb68c216c67d6e6bc6b7b67a3fb91f (MD5)Approved for entry into archive by Almiñana María Cecilia (marialminana@gmail.com) on 2026-07-16T19:02:39Z (GMT) No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Case report VEXAS syndrome.pdf: 16134114 bytes, checksum: 42bb68c216c67d6e6bc6b7b67a3fb91f (MD5)Made available in DSpace by Luna Fabiana (fabiana.luna@seciu.edu.uy) on 2026-07-17T13:46:16Z (GMT). No. of bitstreams: 2 license_rdf: 25630 bytes, checksum: e7132498e7c1fe99f7096667baa99b25 (MD5) Case report VEXAS syndrome.pdf: 16134114 bytes, checksum: 42bb68c216c67d6e6bc6b7b67a3fb91f (MD5) Previous issue date: 20248 p.application/pdfenengFrontiers MediaFrontiers in Hematology. 2024;3Las obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. Nº 16 de C.D.C. de 07/10/2014)info:eu-repo/semantics/openAccessLicencia Creative Commons Atribución (CC - By 4.0)VEXAS syndromeMyelodysplastic syndromeDiagnosisManagementLatin AMericaENFERMEDADES AUTOINMUNESENFERMEDADES HEMATOLÓGICASINFLAMACIÓNGENÉTICAMUTACIÓNVACUOLASCROMOSOMA XENFERMEDADES DEL SISTEMA INMUNESISTEMA INMUNOLÓGICODIGNÓSTICOSÍNDROMES MIELODISPLÁSICOSCase report: VEXAS syndrome: first documented cases in Latin AmericaArtículoinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionreponame:COLIBRIinstname:Universidad de la Repúblicainstacron:Universidad de la RepúblicaOttati, CarolinaGervaz, InésYandian, MartínBoada, MatildeVidal-Senmache, GabrielaOrtiz-Guerra, PercyCatalán, Ana I.Kutscher, PatriciaLópez, DiegoDíaz, LilianGrille, SofíaLICENSElicense.txtlicense.txttext/plain; charset=utf-84267http://localhost:8080/xmlui/bitstream/20.500.12008/56118/5/license.txt6429389a7df7277b72b7924fdc7d47a9MD55CC-LICENSElicense_urllicense_urltext/plain; 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- Universidad de la Repúblicafalse
spellingShingle Case report: VEXAS syndrome: first documented cases in Latin America
Ottati, Carolina
VEXAS syndrome
Myelodysplastic syndrome
Diagnosis
Management
Latin AMerica
ENFERMEDADES AUTOINMUNES
ENFERMEDADES HEMATOLÓGICAS
INFLAMACIÓN
GENÉTICA
MUTACIÓN
VACUOLAS
CROMOSOMA X
ENFERMEDADES DEL SISTEMA INMUNE
SISTEMA INMUNOLÓGICO
DIGNÓSTICO
SÍNDROMES MIELODISPLÁSICOS
status_str publishedVersion
title Case report: VEXAS syndrome: first documented cases in Latin America
title_full Case report: VEXAS syndrome: first documented cases in Latin America
title_fullStr Case report: VEXAS syndrome: first documented cases in Latin America
title_full_unstemmed Case report: VEXAS syndrome: first documented cases in Latin America
title_short Case report: VEXAS syndrome: first documented cases in Latin America
title_sort Case report: VEXAS syndrome: first documented cases in Latin America
topic VEXAS syndrome
Myelodysplastic syndrome
Diagnosis
Management
Latin AMerica
ENFERMEDADES AUTOINMUNES
ENFERMEDADES HEMATOLÓGICAS
INFLAMACIÓN
GENÉTICA
MUTACIÓN
VACUOLAS
CROMOSOMA X
ENFERMEDADES DEL SISTEMA INMUNE
SISTEMA INMUNOLÓGICO
DIGNÓSTICO
SÍNDROMES MIELODISPLÁSICOS
url https://hdl.handle.net/20.500.12008/56118