{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T11:46:25Z","timestamp":1759837585721,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,7,27]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease first reported in 2020, most commonly seen in men aged 56\u201375 years old. Common clinical features include skin lesions (83.5%), fever (63.6%), relapsing chondritis (36.4%), venous thrombosis (34.7%) and lymph node enlargement (33.9%). The patient is a man in his 40s who presented with testicular and lower extremity pain, followed by a rash and bicytopenia. He was initiated on corticosteroids and sulfasalazine. He was found to have mediastinal lymphadenopathy and underwent an endobronchial ultrasound and transbronchial needle aspiration followed by a video-assisted thoracic surgery biopsy which were unrevealing. Eventually, an ubiquitin-like modifier activating enzyme (UBA-1) gene analysis was performed that was consistent with VEXAS syndrome. Patients with VEXAS syndrome usually present with a red or violaceous rash and dyspnoea. Laboratory abnormalities include anaemia, elevated mean corpuscular volume, thrombocytopenia and elevated inflammatory markers. Diagnosis is based on the genetic mutation and associated symptoms. The treatment includes steroids and Janus kinase (JAK) inhibitors, specifically ruxolitinib.<\/jats:p>","DOI":"10.1136\/bcr-2024-261179","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:36:00Z","timestamp":1723163760000},"page":"e261179","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Mediastinal lymphadenopathy due to VEXAS syndrome"],"prefix":"10.1136","volume":"17","author":[{"given":"Jonathan","family":"Burgei","sequence":"first","affiliation":[{"name":"Pulmonary, Guthrie Health, Sayre, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katie M","family":"Alsheimer","sequence":"additional","affiliation":[{"name":"Pulmonary, Guthrie Health, Sayre, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Lantry","sequence":"additional","affiliation":[{"name":"Pulmonary, Guthrie Health, Sayre, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boyd","family":"Hehn","sequence":"additional","affiliation":[{"name":"Pulmonary, Guthrie Health, Sayre, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,8,8]]},"reference":[{"key":"2025082709023184000_17.8.e261179.1","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1080\/17476348.2021.1920404","article-title":"Mediastinal lymphadenopathy: a practical approach","volume":"15","author":"Iyer","year":"2021","journal-title":"Expert Rev Respir Med"},{"key":"2025082709023184000_17.8.e261179.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2026834"},{"key":"2025082709023184000_17.8.e261179.3","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1001\/jama.2022.24836","article-title":"Estimated prevalence and clinical manifestations of UBA1 variants associated with vexas syndrome in a clinical population","volume":"329","author":"Beck","year":"2023","journal-title":"JAMA"},{"key":"2025082709023184000_17.8.e261179.4","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/bjd.20805","article-title":"Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients","volume":"186","author":"Georgin-Lavialle","year":"2022","journal-title":"Br J Dermatol"},{"key":"2025082709023184000_17.8.e261179.5","doi-asserted-by":"crossref","first-page":"107245","DOI":"10.1016\/j.rmed.2023.107245","article-title":"Pulmonary manifestations in VEXAS syndrome","volume":"213","author":"Casal Moura","year":"2023","journal-title":"Respir Med"},{"key":"2025082709023184000_17.8.e261179.6","unstructured":"NGSHM . Overview: Mayocomplete myeloid neoplasms, comprehensive oncoheme next-generation sequencing, varies. NGSHM - Overview: MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies, Available: https:\/\/www.mayocliniclabs.com\/test-catalog\/overview\/63367"},{"key":"2025082709023184000_17.8.e261179.7","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1055\/s-0043-1770958","article-title":"VEXAS syndrome-review","volume":"10","author":"Zhang","year":"2023","journal-title":"Glob Med Genet"},{"key":"2025082709023184000_17.8.e261179.8","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1182\/blood.2022016642","article-title":"Ruxolitinib is more effective than other JAK inhibitors to treat VEXAS syndrome: a retrospective multicenter study","volume":"140","author":"Heiblig","year":"2022","journal-title":"Blood"},{"key":"2025082709023184000_17.8.e261179.9","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1182\/bloodadvances.2023012478","article-title":"Allogeneic hematopoietic cell transplantation for VEXAS syndrome: results of a multicenter study of the EBMT","volume":"8","author":"Gurnari","year":"2024","journal-title":"Blood Adv"},{"key":"2025082709023184000_17.8.e261179.10","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1053\/j.seminhematol.2021.10.002","article-title":"VEXAS within the spectrum of rheumatologic disease","volume":"58","author":"Koster","year":"2021","journal-title":"Semin Hematol"},{"key":"2025082709023184000_17.8.e261179.11","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2022.983939","article-title":"Vasculitis associated with VEXAS syndrome: a literature review","volume":"9","author":"Watanabe","year":"2022","journal-title":"Front Med (Lausanne)"},{"key":"2025082709023184000_17.8.e261179.12","first-page":"3591","article-title":"VEXAS syndrome","volume":"137","author":"Grayson","year":"2021","journal-title":"Blood"},{"key":"2025082709023184000_17.8.e261179.13","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1016\/j.jaad.2022.10.052","article-title":"Clinical and pathological features of cutaneous manifestations in VEXAS syndrome: a multicenter retrospective study of 59 cases","volume":"88","author":"Zakine","year":"2023","journal-title":"J Am Acad Dermatol"},{"key":"2025082709023184000_17.8.e261179.14","doi-asserted-by":"crossref","DOI":"10.1136\/rmdopen-2022-002255","article-title":"Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients","volume":"8","author":"Khitri","year":"2022","journal-title":"RMD Open"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:02:39Z","timestamp":1756310559000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8]]},"references-count":14,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,8,8]]},"published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1136\/bcr-2024-261179"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261179","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,8]]}}}