{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T13:41:15Z","timestamp":1759498875603,"version":"build-2065373602"},"reference-count":10,"publisher":"SMC Media","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction:\u00a0VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified, somatic mutation-driven, autoinflammatory syndrome primarily affecting older males. In VEXAS, somatic\u00a0UBA1\u00a0mutations drive the clonal expansion of bone marrow-derived myeloid cells that infiltrate and initiate inflammation across the body, leading to diverse symptomology. Due to both the relative novelty of its discovery and rarity of its incidence, unique presentations and their management are vital in our continued understanding of the disease. Case description:\u00a0We present a case of a 69-year-old male with no notable medical history who initially presented with episcleritis progressing to complete ophthalmoplegia. CT findings showed marked proptosis of the left eye and thickening of the lateral rectus. Over the subsequent months he presented to hospital repeatedly with worsening fibrotic lung disease. Eventually, after developing pancytopenia, a bone marrow biopsy showed histological features of VEXAS and the diagnosis was confirmed through genetic testing. Discussion:\u00a0This case reveals a novel presentation of VEXAS and demonstrates the rapid progression to multi-organ disease possible in VEXAS. In this case, diagnostic auto-antibody panels all tested negative, and the patient was initially treated with high-dose steroids for suspected ANCA-negative vasculitis. Multiple unsuccessful attempts were made to wean and replace steroids with disease-modifying antirheumatic drugs. Following genetic confirmation of VEXAS, tocilizumab therapy was initiated. Conclusion:\u00a0Due to the rapidly progressive nature of VEXAS and associated high mortality, early diagnosis is critical. This case highlights the importance of considering a bone marrow biopsy for suspicion of VEXAS when presented with an autoantibody-negative, multi-organ, autoinflammatory syndrome.<\/jats:p>","DOI":"10.12890\/2025_005733","type":"journal-article","created":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T14:30:02Z","timestamp":1758033002000},"source":"Crossref","is-referenced-by-count":0,"title":["A patient with VEXAS syndrome presenting with complete ophthalmoplegia"],"prefix":"10.12890","volume":"12","author":[{"given":"James","family":"Krzowski","sequence":"first","affiliation":[{"name":"West Suffolk Hospital NHS Foundation Trust, Suffolk, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luke","family":"Harvey","sequence":"first","affiliation":[{"name":"Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Mitchell","sequence":"first","affiliation":[{"name":"Addenbrooke\u2019s Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Rajagopal","sequence":"first","affiliation":[{"name":"West Suffolk Hospital NHS Foundation Trust, Suffolk, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2025,9,16]]},"reference":[{"key":"10.12890\/2025_005733_ref1","doi-asserted-by":"crossref","unstructured":"Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med 2020;383:2628\u20132638. doi: 10.1056\/NEJMoa2026834","DOI":"10.1056\/NEJMoa2026834"},{"key":"10.12890\/2025_005733_ref2","doi-asserted-by":"crossref","unstructured":"Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON. 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;186:564\u2013574. doi: 10.1111\/bjd.20805","DOI":"10.1136\/annrheumdis-2022-eular.992"},{"key":"10.12890\/2025_005733_ref3","doi-asserted-by":"crossref","unstructured":"Vitale A, Caggiano V, Martin-Nares E, Frassi M, Dagna L, Hissaria P, et al. Orbital\/ocular inflammatory involvement in VEXAS syndrome: data from the international AIDA network VEXAS registry. Semin Arthritis Rheum 2024;66:152430. doi: 10.1016\/j.semarthrit.2024.152430","DOI":"10.1016\/j.semarthrit.2024.152430"},{"key":"10.12890\/2025_005733_ref4","doi-asserted-by":"crossref","unstructured":"Myint K, Patrao N, Vonica O, Vahdani K. Recurrent superior orbital fissure syndrome associated with VEXAS syndrome. J Ophthalmic Inflamm Infect 2023;13:39. doi: 10.1186\/s12348-023-00362-1","DOI":"10.1186\/s12348-023-00362-1"},{"key":"10.12890\/2025_005733_ref5","doi-asserted-by":"crossref","unstructured":"Diprose WK, Jordan A, Anderson NE. Autoinflammatory syndromes in neurology: when our first line of defence misbehaves. Pract Neurol 2022;22:145\u2013153. doi: 10.1136\/practneurol-2021-003031","DOI":"10.1136\/practneurol-2021-003031"},{"key":"10.12890\/2025_005733_ref6","doi-asserted-by":"crossref","unstructured":"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;52:658\u2013662. doi: 10.1111\/imj.15742","DOI":"10.1111\/imj.15742"},{"key":"10.12890\/2025_005733_ref7","doi-asserted-by":"crossref","unstructured":"Zewar A, Zollinger-Read C, Dunkley L, Jefferis JM. Painful diplopia as an initial presentation of VEXAS syndrome. Neuroophthalmology 2024;48:360\u2013363. doi: 10.1080\/01658107.2024.2324387","DOI":"10.1080\/01658107.2024.2324387"},{"key":"10.12890\/2025_005733_ref8","doi-asserted-by":"crossref","unstructured":"Ang T, Tong JY, Selva D. Orbital inflammatory disease due to VEXAS syndrome: an entity to consider. Ophthalmic Plast Reconstr Surg 2024;40:116\u2013117. doi: 10.1097\/IOP.0000000000002570","DOI":"10.1097\/IOP.0000000000002570"},{"key":"10.12890\/2025_005733_ref9","doi-asserted-by":"crossref","unstructured":"Gupta A, Hussain A. Orbital compartment syndrome as a novel manifestation of VEXAS (vacuole, E1 enzyme, X-linked, autoimmune, somatic syndrome). Ophthalmic Plast Reconstr Surg 2024;40:585\u2013586. doi: 10.1097\/IOP.0000000000002669","DOI":"10.1097\/IOP.0000000000002669"},{"key":"10.12890\/2025_005733_ref10","doi-asserted-by":"crossref","unstructured":"Colman BD, Smolyansky ED, Parmar HA, Puvanakumar P, Fraser RG, Ramachandran P, et al. Orbital inflammatory manifestations in a patient with VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. J Neuroophthalmol 2025;45:96\u201399. doi: 10.1097\/WNO.0000000000002270","DOI":"10.1097\/WNO.0000000000002270"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5733\/4855","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5733\/4856","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/5733\/4856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T13:03:04Z","timestamp":1759496584000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/5733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,16]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.12890\/2025_005733","relation":{"has-manifestation":[{"id-type":"other","id":"1-130-5733-g4855","asserted-by":"subject"},{"id-type":"other","id":"1-130-5733-g4856","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-130","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2025,9,16]]}}}