Manifestaciones otorrinolaringológicas del Síndrome VEXAS. Revisión sistemática

  • Lucía Martínez-Díaz
    Facultad de Medicina. Universidad de Cantabria. IDIVAL. Servicio de Otorrinolaringología. Hospital Marqués de Valdecilla de Santander. España https://orcid.org/0009-0008-2600-2377
  • Carmelo Morales-Angulo
    Facultad de Medicina. Universidad de Cantabria. IDIVAL. Servicio de Otorrinolaringología. Hospital Marqués de Valdecilla de Santander. España https://orcid.org/0000-0002-4268-2762 moralesc[at]unican.es

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.
  • Referencias
  • Cómo citar
  • Del mismo autor
  • Métricas
Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UVA1 and severe adult-onset autoinflammatory disease. N Engl J Med 2020;383:2628-2638. https://doi.org/10.1056/NEJMoa2026834

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.

Koster M, Kourelis T, Reichard KK, Kermani TA, Beck DB, Cardona DO. Clinical Heterogeneity of the VEXAS Syndrome: A Case Series Mayo Clin Proc. 2021; 96:2653-2659. doi.org/10.1016/j.mayocp.2021.06.006.

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

Legeas C, Saucereau J, Saraux A, Schoenlaub P. VEXAS syndrome: A first case without any haematological abnormalities. Joint Bone Spine. 2022 Oct 20;90(1):105473. https://doi.org/10.1016/j.jbspin.2022.105473.

Lucchino B, Finucci A, Ghellere F, Bortolotti ME, Tedesco A, Lombardi S. Influence of HLA polymorphisms on clinical features of VEXAS syndrome: a potential epistatic mechanism. Rheumatology (Oxford). 2022 Dec 23;62(1):e7-e8. https://doi.org/10.1093/rheumatology/keac371.

Magnol M, Couvaras L, Degboé Y, Delabesse E, Bulai-Livideanu C, Ruyssen-Witrand A, et al. VEXAS syndrome in a patient with previous spondyloarthritis with a favourable response to intravenous immunoglobulin and anti-IL17 therapy. Rheumatology 2021;1;60(9):e314-e315. https://doi.org/10.1093/rheumatology/keab211.

Mangaonkar AA, Langer KJ, Lasho TL, Finke C, Litzow MR, Hogan WJ, et al. Reduced intensity conditioning allogeneic hematopoietic stem cell transplantation in VEXAS syndrome: Data from a prospective series of patients. Am J Hematol. 2023;98:E28-E31. https://doi.org/10.1002/ajh.26786.

Manzoni M, Bosi A, Fabris S, Lionetti M, Salerio S, Migliorini AC, et al. Clinical, Morphological and Clonal Progression of VEXAS Syndrome in the Context of Myelodysplasia Treated with Azacytidine. Clin Hematol Int. 2022 May 12;4(1-2):52-55. https://doi.org/10.1007/s44228-022-00002-w.

Martín-Nares E, Vargas-Serafín C, Delgado-de la Mora J, Montante-Montes de Oca D, Grayson PC, Larios E, et al. Orbital and periorbital inflammation in VEXAS syndrome. Scand J Rheumatol. 2022;51(4):338-341. https://doi.org/10.1080/03009742.2022.2045791.

Matsuki Y, Kawai R, Suyama T, Katagiri K, Kanazawa N, Inaba Y. A case of VEXAS syndrome with myositis possibly associated with macrophage activation syndrome. J Dermatol. 2022;49(12):e441-e443. https://doi.org/10.1111/1346-8138.16535.

Matsumoto H, Fujita Y, Fukatsu M, Ikezoe T, Yokose K, Asano T, et al. Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome. Front Immunol. 2022 Jun 9;13:897722. https://doi.org/10.3389/fimmu.2022.897722.

Midtvedt Ø, Stray-Pedersen A, Andersson H, Gunnarsson R, Tveten K, Ali MM, et al. A man in his sixties with chondritis and bone marrow failure. Tidsskr Nor Laegeforen. 2022 Feb 28;142(4). https://doi.org/10.4045/tidsskr.21.0370.

Mohammed TO, Alavi A, Aghazadeh N, Koster MJ, Olteanu H, Mangaonkar AA, et al. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a presentation of two cases with dermatologic findings. Int J Dermatol. 2022 Mar 1. https://doi.org/10.1111/ijd.16132.

Muratore F, Marvisi C, Castrignanò P, Nicoli D, Farnetti E, Bonanno O, et al. VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis.Artritis Reumatol. 2022;74(4):665-670. https://doi.org/10.1002/Art.41992.

Neupane K, Jayarangaiah A, Zhang Y, Kumar A. VEXAS syndrome with progression of MDS to MDS/MPN overlap syndrome. BMJ Case Rep. 2022 Dec 22;15(12):e251089. https://doi.org/10.1136/bcr-2022-251089.

Nguyen JK, Routledge D, van Der Weyden C, Blombery P, Angel CM, Johnson D, et al. VEXAS syndrome: A dermatological perspective. Australas J Dermatol. 2022;63(4):488-492. https://doi.org/10.1111/ajd.13932.

Pathmanathan K, Taylor E, Balendra J, Lim A, Carroll G. VEXAS syndrome: favourable clinical and partial haematological responses to subcutaneous abatacept therapy with 30-month follow-up. Rheumatology (Oxford). 2022 jul 6;61(7):e174-e177. https://doi.org/10.1093/rheumatology/keac054.

Pàmies A, Ferràs P, Bellaubí-Pallarés N, Giménez T, Raventós A, Colobran R. VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis. Rheumatology (Oxford). 2022 Mar 2;61(3):e69-e71. https://doi.org/10.1093/rheumatology/keab782.

Perlot Q, Cabo J, Jacqmin H, Depaus J. Un érythème et des anomalies sanguines [Erythema and blood abnormality]. Rev Med Interne. 2022 Sep 30:S0248-8663(22)00640-3. French. https://doi.org/10.1016/j.revmed.2022.09.006.

Poulter J; UKGCA/VEXAS Consortium; Morgan A, Cargo C, Savic S. A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts. J Clin Immunol. 2022;42(5):947-951. https://doi.org/10.1007/s10875-022-01258-w.

Raaijmakers MHGP, Hermans M, Aalbers A, Rijken M, Dalm VASH, Daele P, et al. Azacytidine Treatment for VEXAS Syndrome. HemaSphere. 2021;5:12(e661). http://dx.doi.org/10.1097/HS9.0000000000000661

Rivera EG, Patnaik A, Salvemini J, Jain S, Lee K, Lozeau D, et al. SARS-CoV-2/COVID-19 and its relationship with NOD2 and ubiquitination. Clin Immunol. 2022;238:109027. https://doi.org/10.1016/j.clim.2022.109027.

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.

Staels F, Betrains A, Sherida FJ,Woei-A-Jin H, Boeckx N, Beckers M, et al. Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome. Front Immunol.2021; 12: 678927. https://doi.org/10.3389/fimmu.2021.678927

Stubbins RJ, McGinnis E, Johal B, Chen LY, Wilson L, Cardona DO, et al. VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome). Haematologica. 2022 Apr 1;107(4):1011-1013. https://doi.org/10.3324/haematol.2021.280238.

Takahashi N, Takeichi T, Nishida T, Sato J, Takahashi Y, Yamamura M, et al. Extensive Multiple Organ Involvement in VEXAS Syndrome. Arthritis Rheumatol 2021;73(10):1896-1897. https://doi.org/10.1002/art.41775

Templé M, Duroyon E, Croizier C, Rossignol J, Huet T, Friedrich C, et al. Atypical splice-site mutations causing VEXAS syndrome Rheumatology (Oxford) 2021 Dec 1;60(12):e435-e437. https://doi.org/10.1093/rheumatology/keab524.

Topilow JS, Ospina Cardona D, Beck DB, Ferrada MA, McMahan ZH, et al. Novel genetic mutation in myositis-variant of VEXAS syndrome. Rheumatology (Oxford). 2022 Nov 28;61(12):e371-e373. https://doi.org/10.1093/rheumatology/keac356.

Tsuchida N, Kunishita Y, Uchiyama Y, Kirino Y, Enaka M, Yamaguchi Y, et al. Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis. Ann Rheum Dis 2021;80:1057–1061. https://doi.org/10.1136/annrheumdis-2021-220089

Uchino K, Kanasugi J, Enomoto M, Kitamura F, Tsuchida N, Uchiyama Y, et al. Vexas síndrome. Int J Hematol. 2022 Oct;116(4):463-464.https://doi.org/10.1007/s12185-022-03448-z.

van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, et al. Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS. J Allergy Clin Immunol. 2022;149(1):432-439.e4. https://doi.org/10.1016/j.jaci.2021.05.014.

van Leeuwen-Kerkhoff N, de Witte MA, Heijstek MW, Leavis HL. Case report: Up-front allogeneic stem cell transplantation in a patient with the VEXAS syndrome. Br J Haematol. 2022;199(3):e12-e15. https://doi.org/10.1111/bjh.18424.

Varadarajan A, Verghese R, Tirlangi PK, Dass J, Soneja M, Seth T. VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). QJM. 2022 Nov 21:hcac259. https://doi.org/10.1093/qjmed/hcac259.

Wilke MVMB, Morava-Kozicz E, Koster MJ, Schmitz CT, Foster SK, Patnaik M, et al. Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report. BMC Rheumatol. 2022 Aug 30;6(1):54. https://doi.org/10.1186/s41927-022-00281-z.

Wilson NR, Jain P, Gomez JA, Lu H, Pemmaraju N. Concurrent myelodysplasia and monoclonal B lymphocytosis in VEXAS syndrome. Leuk Res. 2022;120:106909. https://doi.org/10.1016/j.leukres.2022.106909.

Yamaguchi H, Kobayashi D, Nakamura G, Aida R, Horii Y, Okamoto T, et al. Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome. Mod Rheumatol Case Rep. 2022 Oct 20:rxac082. https://doi.org/10.1093/mrcr/rxac082.

Yildirim F, Erdogan M, Yalcin Mutlu M, Akkuzu G, Ozgur DS, Karaalioglu B, et al. VEXAS syndrome with severe multisystem involvement: Rapid recovery after splenectomy. Int J Rheum Dis. 2022;26:559-562. https://doi.org/10.1111/1756-185X.14540.

Yılmaz U, Güner S, Eşkazan T, Demiröz AS, Kurtuluş G, Bahar F, et al. Kikuchi Fujimoto disease as the presenting component of VEXAS syndrome: a case report of a probable association. Clin Rheumatol. 2022;41(11):3589-3592. https://doi.org/10.1007/s10067-022-06331-8.

Zeeck M, Kötter I, Krusche M. VEXAS-Syndrom [VEXAS syndrome]. Z Rheumatol. 2022;81(9):782-786. https://doi.org/10.1007/s00393-022-01169-6.

Khitri MY, Guedon AF, Georgin-Lavialle S, Terrier B, Saadoun D, Seguier J, et al. French VEXAS group and MINHEMON. Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients. RMD Open. 2022;8(2):e002255. https://doi.org/10.1136/rmdopen-2022-002255.

Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, et al. Somatic mutations inUBA1 define a distinct subset of relapsing polychondritis patients with VEXAS. Arthritis Rheumatol. 2021;73:1886-95). https://doi.org/10.1002/art.41743

Ferrada MA, Savic S, Ospina Cardona D, Collins JC, Alessi H, Gutierrez-Rodrigues F, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. 2022. Sep 29;140(13):1496-1506. https://doi.org/10.1182/blood.2022016985

Diarra A, Duployez N, Terriou L. Mutant UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2021;384(22):2163–2164. https://doi.org/10.1056/NEJMc2102124.

Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Br J Dermatol. 2022; 186(3):564–74. https://doi.org/10.1111/bjd.20805

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.

Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK., et al. Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021 Aug 24; 5(16): 3203–3215. https://doi.org/10.1182/bloodadvances.2021004976
Martínez-Díaz, L., & Morales-Angulo, C. (2023). Manifestaciones otorrinolaringológicas del Síndrome VEXAS. Revisión sistemática. Revista ORL, 14(4), e31513. https://doi.org/10.14201/orl.31513

Artículos más leídos del mismo autor/a

1 2 > >> 

Descargas

Los datos de descargas todavía no están disponibles.
+