Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento.
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| Title: | Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento. |
|---|---|
| Authors: | Loeza-Uribe, Michelle Patricia1 (AUTHOR), Hinojosa-Azaola, Andrea1 (AUTHOR), Sánchez-Hernández, Beatriz E.2 (AUTHOR), Crispín, José C.1 (AUTHOR), Apodaca-Chávez, Elia3 (AUTHOR), Ferrada, Marcela A.1,4 (AUTHOR) marcela.ferrada@nih.gov, Martín-Nares, Eduardo1 (AUTHOR) eduardomartinnares@gmail.com |
| Source: | Reumatología Clínica. Jan2024, Vol. 20 Issue 1, p47-56. 10p. |
| Subjects: | PURE red cell aplasia, STEM cell transplantation, SWEET'S syndrome, POLYARTERITIS nodosa, SYMPTOMS, MYELODYSPLASTIC syndromes |
| Abstract: | El síndrome de VEXAS (Vacuolas, enzima E1, ligado al X, Autoinflamatorio, Somático) es un síndrome autoinflamatorio de inicio en la edad adulta que se caracteriza por mutaciones somáticas en el gen UBA1 y se considera el prototipo de enfermedad hematoinflamatoria. Los pacientes con síndrome de VEXAS exhiben manifestaciones inflamatorias y hematológicas que pueden conducir a diagnósticos clínicos como policondritis recidivante, poliarteritis nodosa, síndrome de Sweet y síndrome mielodisplásico. El diagnóstico requiere la evaluación de la médula ósea en búsqueda de vacuolas citoplásmicas en precursores mieloides y eritroides. Sin embargo, la confirmación genética de las mutaciones en UBA1 es necesaria. El tratamiento es un desafío y a menudo incluye glucocorticoides e inmunosupresores, con respuestas variables. Las terapias hipometilantes y el trasplante alogénico de células progenitoras hematopoyéticas se consideran terapias prometedoras. El pronóstico es influido por factores genéticos y clínicos. El objetivo de esta revisión es proporcionar una visión general sobre la patogénesis, la presentación clínica, el tratamiento y el pronóstico del síndrome de VEXAS para la comunidad médica latinoamericana. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community. [ABSTRACT FROM AUTHOR] |
| Copyright of Reumatología Clínica is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
| FullText | Text: Availability: 0 |
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| Header | DbId: lth DbLabel: MedicLatina An: 174317512 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Loeza-Uribe%2C+Michelle+Patricia%22">Loeza-Uribe, Michelle Patricia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hinojosa-Azaola%2C+Andrea%22">Hinojosa-Azaola, Andrea</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sánchez-Hernández%2C+Beatriz+E%2E%22">Sánchez-Hernández, Beatriz E.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Crispín%2C+José+C%2E%22">Crispín, José C.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Apodaca-Chávez%2C+Elia%22">Apodaca-Chávez, Elia</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ferrada%2C+Marcela+A%2E%22">Ferrada, Marcela A.</searchLink><relatesTo>1,4</relatesTo> (AUTHOR)<i> marcela.ferrada@nih.gov</i><br /><searchLink fieldCode="AR" term="%22Martín-Nares%2C+Eduardo%22">Martín-Nares, Eduardo</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> eduardomartinnares@gmail.com</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Reumatología+Clínica%22">Reumatología Clínica</searchLink>. Jan2024, Vol. 20 Issue 1, p47-56. 10p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22PURE+red+cell+aplasia%22">PURE red cell aplasia</searchLink><br /><searchLink fieldCode="DE" term="%22STEM+cell+transplantation%22">STEM cell transplantation</searchLink><br /><searchLink fieldCode="DE" term="%22SWEET'S+syndrome%22">SWEET'S syndrome</searchLink><br /><searchLink fieldCode="DE" term="%22POLYARTERITIS+nodosa%22">POLYARTERITIS nodosa</searchLink><br /><searchLink fieldCode="DE" term="%22SYMPTOMS%22">SYMPTOMS</searchLink><br /><searchLink fieldCode="DE" term="%22MYELODYSPLASTIC+syndromes%22">MYELODYSPLASTIC syndromes</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: El síndrome de VEXAS (Vacuolas, enzima E1, ligado al X, Autoinflamatorio, Somático) es un síndrome autoinflamatorio de inicio en la edad adulta que se caracteriza por mutaciones somáticas en el gen UBA1 y se considera el prototipo de enfermedad hematoinflamatoria. Los pacientes con síndrome de VEXAS exhiben manifestaciones inflamatorias y hematológicas que pueden conducir a diagnósticos clínicos como policondritis recidivante, poliarteritis nodosa, síndrome de Sweet y síndrome mielodisplásico. El diagnóstico requiere la evaluación de la médula ósea en búsqueda de vacuolas citoplásmicas en precursores mieloides y eritroides. Sin embargo, la confirmación genética de las mutaciones en UBA1 es necesaria. El tratamiento es un desafío y a menudo incluye glucocorticoides e inmunosupresores, con respuestas variables. Las terapias hipometilantes y el trasplante alogénico de células progenitoras hematopoyéticas se consideran terapias prometedoras. El pronóstico es influido por factores genéticos y clínicos. El objetivo de esta revisión es proporcionar una visión general sobre la patogénesis, la presentación clínica, el tratamiento y el pronóstico del síndrome de VEXAS para la comunidad médica latinoamericana. VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory syndrome characterized by somatic mutations in the UBA1 gene and is considered the prototype of hematoinflammatory diseases. Patients with VEXAS syndrome exhibit inflammatory and hematological manifestations that can lead to clinical diagnoses such as relapsing polychondritis, polyarteritis nodosa, Sweet syndrome, and myelodysplastic syndrome. Diagnosis requires bone marrow evaluation to identify cytoplasmic vacuoles in myeloid and erythroid precursors. However, genetic confirmation of mutations in UBA1 is necessary. Treatment is challenging and often involves glucocorticoids and immunosuppressants with variable responses. Hypomethylating agents and allogenic haemopoietic stem cell transplant are considered promising therapies. Prognosis is influenced by genetic and clinical factors. The aim of this review is to provide an overview of the pathogenesis, clinical presentation, treatment, and prognosis of VEXAS syndrome for the Latin American medical community. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Reumatología Clínica is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.reuma.2023.10.006 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 47 Subjects: – SubjectFull: PURE red cell aplasia Type: general – SubjectFull: STEM cell transplantation Type: general – SubjectFull: SWEET'S syndrome Type: general – SubjectFull: POLYARTERITIS nodosa Type: general – SubjectFull: SYMPTOMS Type: general – SubjectFull: MYELODYSPLASTIC syndromes Type: general Titles: – TitleFull: Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Loeza-Uribe, Michelle Patricia – PersonEntity: Name: NameFull: Hinojosa-Azaola, Andrea – PersonEntity: Name: NameFull: Sánchez-Hernández, Beatriz E. – PersonEntity: Name: NameFull: Crispín, José C. – PersonEntity: Name: NameFull: Apodaca-Chávez, Elia – PersonEntity: Name: NameFull: Ferrada, Marcela A. – PersonEntity: Name: NameFull: Martín-Nares, Eduardo IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 1699258X Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Reumatología Clínica Type: main |
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