Journal Information
Vol. 20. Issue 1.
Pages 47-56 (January 2024)
Share
Share
Download PDF
More article options
ePub
Visits
4
Vol. 20. Issue 1.
Pages 47-56 (January 2024)
Review Article
VEXAS syndrome: Clinical manifestations, diagnosis, and treatment
Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento
Visits
4
Michelle Patricia Loeza-Uribea, Andrea Hinojosa-Azaolaa, Beatriz E. Sánchez-Hernándezb, José C. Crispína, Elia Apodaca-Chávezc, Marcela A. Ferradad,
Corresponding author
marcela.ferrada@nih.gov

Corresponding authors.
, Eduardo Martín-Naresa,
Corresponding author
eduardomartinnares@gmail.com

Corresponding authors.
a Departamento de Inmunología y Reumatología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, Mexico
b Departamento de Patología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, Mexico
c Departamento de Hematología y Oncología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, Mexico
d National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
This item has received
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (4)
Show moreShow less
Tables (1)
Table 1. Clinical diagnoses of patients with VEXAS syndrome.
Abstract

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.

Keywords:
VEXAS syndrome
Autoinflammatory syndrome
Vasculitis
Relapsing polychondritis
Sweet syndrome
Resumen

El síndrome de VEXAS (Vacuolas, enzima E1, ligado al X, Autoinflamatorio, Somático) es un síndrome autoinflamatorio de inicio en la edad adulta, caracterizada 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, presentación clínica, tratamiento y pronóstico del síndrome de VEXAS para la comunidad médica Latinoamericana.

Palabras clave:
Síndrome de VEXAS
Síndrome autoinflamatorio
Vasculitis
Policondritis recidivante
Síndrome de sweet

Article

These are the options to access the full texts of the publication Reumatología Clínica (English Edition)
Member
If you are member of Sociedad Española de Reumatología (SER) or the Colegio Mexicano de Reumatología (CMR):
Please go to the member area of SER or CMR and log in.
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Reumatología Clínica (English Edition)

Purchase
Purchase article

Purchasing article the PDF version will be downloaded

Price 19.34 €

Purchase now
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
Email
Idiomas
Reumatología Clínica (English Edition)
Article options
Tools
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?