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Inicio Medicina Clínica (English Edition) Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: T...
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Vol. 159. Issue 10.
Pages 489-496 (November 2022)
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Vol. 159. Issue 10.
Pages 489-496 (November 2022)
Review
Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome
Cambio de paradigma en las enfermedades autoinflamatorias monogénicas y las vasculitis sistémicas: el síndrome VEXAS
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José Hernández-Rodrígueza,
Corresponding author
jhernan@clinic.cat

Corresponding author.
, Anna Mensa-Vilarób, Juan I. Arósteguib
a Unidad Clínica de Enfermedades Autoinflamatorias y Grupo de Investigación en Vasculitis, Servicio de Enfermedades Autoinmunes, Hospital Clínic de Barcelona, Universitat de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
b Servicio de Inmunología, Hospital Clínic de Barcelona, Universitat de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
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Abstract

VEXAS syndrome was described by the end of 2020 as an autoinflammatory disease caused by post-zygotic variants in the UBA1 gene. VEXAS syndrome occurs in adult males with recurrent fever, arthralgia/arthritis, ear/nose chondritis, neutrophilic dermatosis, lung inflammation, venous thrombosis, and different types of vasculitis. Common laboratory changes include raised acute phase reactants and macrocytic anemia. The coexistence of myelodysplasia is frequent, and bone marrow vacuolization of myeloid and erythroid precursors is characteristic. Glucocorticoids are effective at medium-high doses, but the remaining immunosuppressive drugs, either conventional or biological, have showed limited or absent efficacy. Azacitidine has been associated with a good response, especially in patients with accompanying myelodysplastic syndrome. Allogeneic hematopoietic stem cell transplantation appears to be the only curative therapy by now. VEXAS syndrome has become a paradigm shift in the diagnosis and treatment of autoinflammatory diseases and systemic vasculitis.

Keywords:
VEXAS syndrome
Monogenic autoinflammatory diseases
Autoinflammation
Adult-onset
Mosaicism
Resumen

A finales de 2020 se describió el síndrome VEXAS, como una enfermedad autoinflamatoria causada por variantes poscigóticas en el gen UBA1. Se presenta en varones adultos con fiebre recurrente, artralgias/artritis, condritis auricular/nasal, dermatosis neutrofílica, inflamación pulmonar, trombosis venosas y diferentes tipos de vasculitis. Los análisis muestran una respuesta de fase aguda elevada y anemia macrocítica. Es frecuente la coexistencia de mielodisplasia, y son características las vacuolas citoplasmáticas en precursores mieloides y eritroides en médula ósea. Los glucocorticoides a dosis medias-altas son eficaces, pero el resto de fármacos inmunodepresores, convencionales o biológicos, muestran una eficacia limitada o ausente. Azacitidina se ha asociado con una buena respuesta, sobre todo en pacientes con síndrome mielodisplásico acompañante. El trasplante alogénico de progenitores hematopoyéticos parece ser la única terapia curativa hasta el momento. El síndrome VEXAS ha supuesto un cambio de paradigma en el diagnóstico y tratamiento de las enfermedades autoinflamatorias y las vasculitis sistémicas.

Palabras clave:
Síndrome VEXAS
Enfermedades autoinflamatorias monogénicas
Autoinflamación
Inicio en la edad adulta
Mosaicismo

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