Manifestaciones otorrinolaringológicas del Síndrome VEXAS. Revisión sistemática
Resumen Introducción y objetivo: El síndrome VEXAS (SV) es una entidad de descripción reciente que afecta fundamentalmente a varones, y se debe a una mutación somática en el gen UBA1. Puede cursar con múltiples manifestaciones sistémicas, siendo la afectación de cabeza y cuello muy frecuente. El objetivo de este estudio fue describir las manifestaciones otorrinolaringológicas del SV, que contribuyan a un diagnóstico y tratamiento temprano de la enfermedad. Método: Se realizó una revisión de la literatura médica, utilizando los criterios PRISMA adaptados al tipo de estudio, de las manifestaciones otorrrinolaringológicas del SV, utilizando la base de datos Pubmed. Resultados: Fueron incluidos en nuestro trabajo 81 artículos que cumplían los criterios de inclusión del mismo, los cuales describían 133 casos. Los resultados mostraron que el SV se produce sobre todo, en varones mayores de 50 años de edad, presentando en más de la mitad de los casos, manifestaciones de cabeza y cuello, entre las que destacan la CA, la condritis nasal y el edema periorbitario, Conclusiones: Con frecuencia el SV es confundido, en los pacientes con manifestaciones otorrinolaringológicas, con la policondritis recurrente. El conocimiento por parte del otorrinolaringólogo de las manifestaciones de cabeza y cuello asociadas al mismo, puede contribuir a un diagnóstico y tratamiento temprano mejorando el pronóstico de la enfermedad.
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Ciferska H, Gregová M, Klein M, Šenolt L, Soukupová Maaloufová J, Pavelka K, et al. VEXAS syndrome: a report of three cases. Clin Exp Rheumatol. 2022;40(7):1449. https://doi.org/10.55563/clinexprheumatol/3z07e9.
Lee SMS, Fan BE, Lim JH, Goh LL, Lee JSS, Koh LW. A case of VEXAS syndrome manifesting as Kikuchi-Fujimoto disease, relapsing polychondritis, venous thromboembolism and macrocytic anaemia. Rheumatology 2021;60:e304–e306. https://doi.org/10.1093/rheumatology/keab200
Beaumesnil S, Boucher S, Lavigne C, Urbanski G, Lacombe V. Ear, Nose, Throat, and Bronchial Involvements in VEXAS Syndrome: Specifying the Spectrum of Clinical Features. JAMA Otolaryngol Head Neck Surg. 2022 Mar 1;148(3):284-286. https://doi.org/10.1001/jamaoto.2021.4092.
Barba T, Jamilloux Y, Durel CA, Bourbon E, Mestrallet F, Sujobert P, et al. VEXAS syndrome in a woman. Rheumatology (Oxford). 2021 Nov 3;60(11):e402-e403. https://doi.org/10.1093/rheumatology/keab392.
Diarra A, Duployez N, Fournier E, Preudhomme C, Coiteux V, Magro L, et al. Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience. Blood Adv. 2022 Feb 8;6(3):998-1003. https://doi.org/10.1182/bloodadvances.2021004749.
Al-Hakim A, Poulter JA, Mahmoud D, Rose AMS, Elcombe S, Lachmann H, et al. Allogeneic haematopoietic stem cell transplantation for VEXAS syndrome: UK experience. Br J Haematol. 2022;199(5):777-781. https://doi.org/10.1111/bjh.18488.
Beecher MB, Tong JY, Halliday LA, Hissaria P, Selva D. Recurrent orbital inflammation associated with VEXAS syndrome. Orbit. 2022 Sep 27:1-4. https://doi.org/10.1080/01676830.2022.2126501.
Bert-Marcaz C, Briantais A, Faucher B, Corazza G, Ebbo M, Attarian S, et al. Expanding the spectrum of VEXAS syndrome: association with acute-onset CIDP. J Neurol Neurosurg Psychiatry. 2022;93(7):797-798. https://doi.org/10.1136/jnnp-2021-327949.
Campochiaro C, Tomelleri A, Cavalli G, De Luca G, Grassini G, Cangi MG, et al. Successful use of cyclosporin A and interleukin-1 blocker combination therapy in VEXAS syndrome: a single-center case series. Arthritis Rheumatol. 2022;74(7):1302-1303. https://doi.org/10.1002/art.42101.
Ciprian G. Adverse Reaction to COVID-19 mRNA Vaccination in a Patient With VEXAS Syndrome. Cureus. 2022 Mar 24;14(3):e23456. https://doi.org/10.7759/cureus.23456.
Dehghan N, K Marcon KM, Sedlic T, Beck DB, Dutz JP, Chen LYC. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: fevers, myalgia, arthralgia, auricular chondritis, and erythema nodosum. Lancet 2021; 398: 621. https://doi.org/10.1016/S0140-6736(21)01430-6.
Escoda T, Farnault L, Gallard J, Marceau-Renaut A, Attarian S, Delmont E. Azacitidine, a therapeutic option in Lewis and Sumner syndrome associated with VEXAS syndrome. Rev Neurol (Paris). 2022;178(10):1109-1111. https://doi.org/10.1016/j.neurol.2022.06.008.
Euvrard R, Fournier T, Georgescu D, Bourbon E, Sujobert P, Lega JC, et al. VEXAS syndrome-related AA amyloidosis: a case report. Rheumatology (Oxford) 2021;24;61(1):e15-e16. https://doi.org/10.1093/rheumatology/keab683.
Goyal A, Narayanan D, Wong W, Laga AC, Connell NT, Ritter SY, et al. Tocilizumab for treatment of cutaneous and systemic manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome without myelodysplastic syndrome. JAAD Case Rep. 2022 Mar 2;23:15-19. https://doi.org/10.1016/j.jdcr.2022.02.022.
Grey A, Cheong PL, Lee FJ, Abadir E, Favaloro J, Yang S, et al. A Case of VEXAS Syndrome Complicated by Hemophagocytic Lymphohistiocytosis. J Clin Immunol 2021;41(7):1648-1651. https://doi.org/10.1007/s10875-021-01070-y
Grosse A, Salehi T, Callary M, Hecker JR, Hissaria P. VEXAS syndrome causing fever of unknown origin. Med J Aust. 2022 Aug 1;217(3):129-130. https://doi.org/10.5694/mja2.51646.
Guerrero-Bermúdez CA, Cardona-Cardona AF, Ariza-Parra EJ, Arostegui JI, Mensa-Vilaro A, Yague J, et al. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review. Clin Rheumatol. 2022;41(11):3565-3572. https://doi.org/10.1007/s10067-022-06338-1.
Gunnarsson K, Vivar Pomiano N, Tesi B, Tobiasson M, Creignou M, Ungerstedt J. VEXAS – nytt autoinflammatoriskt syndrom med bred symtombild [Two cases of VEXAS syndrome]. Lakartidningen. 2022 sep 7;119:22024. Swedish. PMID: 36082915.
Holmes A, Thant A, Correy R, Vilain R. Inflammatory pseudotumour arising secondary to VEXAS syndrome. Pathology. 2022 Jun 27:S0031-3025(22)00184-2. https://doi.org/10.1016/j.pathol.2022.04.011.
Islam S, Cullen T, Sumpton D, Damodaran A, Heath D, Bosco A, et al. VEXAS syndrome: lessons learnt from an early Australian case series. Intern Med J 2022;52(4):658-662. https://doi.org/10.1111/imj.15742.
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Lacombe V, Prevost M, Bouvier A, Thepot S, Chabrun F, Kosmider O, et al. Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold. Br J Haematol, 2021;195:276–292. https://doi.org/10.1111/bjh.17679
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Sakuma M , Tanimura A , Yasui S , Ishiguro K , Kobayashi T , Ohshiro Y. et al. A Case of polychondritis-onset refractory organizing pneumonia with cytopaenia diagnosed as VEXAS syndrome: the disease course of 7 years. Rheumatology 2021;60:356–359. https://doi.org/10.1093/rheumatology/keab349.
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