Case report: VEXAS syndrome: first documented cases in Latin America
IntroductionVEXAS 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 abnormalit...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Hematology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/frhem.2024.1501337/full |
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| author | Carolina Ottati Inés Gervaz Inés Gervaz Martín Yandian Martín Yandian Matilde Boada Matilde Boada Gabriela Vidal-Senmache Percy Ortiz-Guerra Ana I. Catalán Patricia Kutscher Diego Lopez Lilian Diaz Sofia Grille Sofia Grille |
| author_facet | Carolina Ottati Inés Gervaz Inés Gervaz Martín Yandian Martín Yandian Matilde Boada Matilde Boada Gabriela Vidal-Senmache Percy Ortiz-Guerra Ana I. Catalán Patricia Kutscher Diego Lopez Lilian Diaz Sofia Grille Sofia Grille |
| author_sort | Carolina Ottati |
| collection | DOAJ |
| description | IntroductionVEXAS 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.MethodsWe 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.ResultsEach 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.DiscussionThese 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. |
| format | Article |
| id | doaj-art-a51ddf0fd93f475ea74c2adc69dc0bec |
| institution | Kabale University |
| issn | 2813-3935 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Hematology |
| spelling | doaj-art-a51ddf0fd93f475ea74c2adc69dc0bec2025-01-16T06:10:50ZengFrontiers Media S.A.Frontiers in Hematology2813-39352025-01-01310.3389/frhem.2024.15013371501337Case report: VEXAS syndrome: first documented cases in Latin AmericaCarolina Ottati0Inés Gervaz1Inés Gervaz2Martín Yandian3Martín Yandian4Matilde Boada5Matilde Boada6Gabriela Vidal-Senmache7Percy Ortiz-Guerra8Ana I. Catalán9Patricia Kutscher10Diego Lopez11Lilian Diaz12Sofia Grille13Sofia Grille14Laboratorio de Citometría y Biología Molecular, Departamento Básico de Medicina, Hospital de Clínicas, Universidad de la República, Montevideo, UruguayLaboratorio de Citometría y Biología Molecular, Departamento Básico de Medicina, Hospital de Clínicas, Universidad de la República, Montevideo, UruguayUnidad Académica de Hematología, Hospital de Clínicas, Facultad de Medicina, Universidad de la Republica, Montevideo, UruguayUnidad Académica Médica A. Hospital de Clínicas, Facultad de Medicina, Universidad de la Republica, Montevideo, UruguayHematology Department, Médica Uruguaya (MUCAM), Montevideo, UruguayLaboratorio de Citometría y Biología Molecular, Departamento Básico de Medicina, Hospital de Clínicas, Universidad de la República, Montevideo, UruguayUnidad Académica de Hematología, Hospital de Clínicas, Facultad de Medicina, Universidad de la Republica, Montevideo, UruguayHematology Department, Hospital Nacional Edgardo Rebagliati Martins, Lima, PeruHematology Department, Hospital Nacional Edgardo Rebagliati Martins, Lima, PeruLaboratorio de Citometría y Biología Molecular, Departamento Básico de Medicina, Hospital de Clínicas, Universidad de la República, Montevideo, UruguayUnidad Académica de Dermatología, Hospital de Clínicas, Facultad de Medicina, Universidad de la Republica, Montevideo, UruguayUnidad Académica de Dermatología, Hospital de Clínicas, Facultad de Medicina, Universidad de la Republica, Montevideo, UruguayHematology Department, Médica Uruguaya (MUCAM), Montevideo, UruguayLaboratorio de Citometría y Biología Molecular, Departamento Básico de Medicina, Hospital de Clínicas, Universidad de la República, Montevideo, UruguayUnidad Académica de Hematología, Hospital de Clínicas, Facultad de Medicina, Universidad de la Republica, Montevideo, UruguayIntroductionVEXAS 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.MethodsWe 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.ResultsEach 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.DiscussionThese 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.https://www.frontiersin.org/articles/10.3389/frhem.2024.1501337/fullVEXAS syndromemyelodysplastic syndromediagnosismanagementLatin America |
| spellingShingle | Carolina Ottati Inés Gervaz Inés Gervaz Martín Yandian Martín Yandian Matilde Boada Matilde Boada Gabriela Vidal-Senmache Percy Ortiz-Guerra Ana I. Catalán Patricia Kutscher Diego Lopez Lilian Diaz Sofia Grille Sofia Grille Case report: VEXAS syndrome: first documented cases in Latin America Frontiers in Hematology VEXAS syndrome myelodysplastic syndrome diagnosis management Latin America |
| 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 |
| url | https://www.frontiersin.org/articles/10.3389/frhem.2024.1501337/full |
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