Ear, nose, and throat manifestations of VEXAS Syndrome. Systematic review
Abstract Introduction and objetives: VEXAS syndrome (VS) is a recently described clinical entity that mainly affects males, and is due to a somatic mutation in the UBA1 gene. It can present with multiple systemic manifestations, especially hematological and dermatological , being the affectation of the head and neck very frequent, especially, auricular chondritis (AC). The objective of this study was to describe the otorhinolaryngological manifestations of VS, knowledge of which by the otolaryngologist could contribute to early diagnosis and treatment of the disease Methods: .A review of the medical literature was carried out, using the PRISMA criteria adapted to the type of study, of the otorhinolaryngological manifestations of VS, from its description in the year 2020 to December 2022, using the Pubmed database. Results: 81 articles that met the inclusion criteria were included in our work, which described 133 cases in detail. The results showed that VS occurs mainly in men over 50 years of age, presenting in more than half of the cases head and neck manifestations, among which AC, nasal chondritis and periorbital edema stand out. Conclusions: Since VS can affect any part of the body, mimicking the clinical pictures of other diseases, it has often been confused, in patients with otorhinolaryngological manifestations, especially with recurrent polychondritis. Knowledge by the otolaryngologist of the head and neck manifestations associated with it can contribute to early diagnosis and treatment, improving the prognosis of the disease.
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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
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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.
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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.
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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.
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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
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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
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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.
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