{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T20:04:40Z","timestamp":1781813080754,"version":"3.54.5"},"reference-count":20,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:00:00Z","timestamp":1662595200000},"content-version":"unspecified","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2022,8,23]]},"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is an autoinflammatory condition with overlapping features of rheumatology and haematology caused by somatic mutations in the UBA1 gene. Patients present with highly variable symptoms and their path towards diagnosis are often complicated and characterised by extensive examinations. It is, therefore, pivotal that clinicians become familiar with the clinical presentation of VEXAS to advance identification of patients with the disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>We aimed to (1) characterise patients diagnosed with VEXAS in a tertiary rheumatology referral centre, (2) identify common rheumatological biomarkers that may distinguish VEXAS from other rheumatic diseases and (3) suggest which clinical findings should motivate genetic testing for VEXAS.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Patients were identified and diagnosed at the department of Rheumatology, Aarhus University Hospital (AUH), Denmark. Blood samples were examined for VEXAS-associated <jats:italic>UBA1<\/jats:italic> variants by Sanger sequencing at the department of Clinical Immunology, AUH. Clinical and biochemical data were retrieved from the hospital electronic patient chart.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Eleven male patients with clinical suspicion of VEXAS underwent sequencing. Five of these carried known VEXAS-associated variants. Median age at diagnosis was 84 (75\u201387) years. All patients had significantly elevated inflammatory markers with a median C-reactive protein (CRP) of 297 (196\u2013386) mg\/L and macrocytic anaemia. None of the patients presented common biomarkers for autoimmunity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Danish patients with VEXAS syndrome are men with persistent inflammation, constitutional symptoms and heterogeneous clinical presentations. Shared features for all patients in this study were highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/rmdopen-2022-002492","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T11:27:25Z","timestamp":1662636445000},"page":"e002492","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Patients with VEXAS diagnosed in a Danish tertiary rheumatology setting have highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers"],"prefix":"10.1136","volume":"8","author":[{"given":"Mads Nyhuus Bendix","family":"Rasch","sequence":"first","affiliation":[{"name":"Rheumatology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fruzsina","family":"Szabados","sequence":"additional","affiliation":[{"name":"Rheumatology, Sygehus Vendsyssel i Hj\u00f8rring, Hjorring, Nordjylland, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens Magnus Bernth","family":"Jensen","sequence":"additional","affiliation":[{"name":"Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirstine Overgaard","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen-Margrethe","family":"Hauge","sequence":"additional","affiliation":[{"name":"Rheumatology, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9501-1268","authenticated-orcid":false,"given":"Anne","family":"Troldborg","sequence":"additional","affiliation":[{"name":"Rheumatology, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Biomedicine, Aarhus University, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,9,8]]},"reference":[{"key":"2025090312430589000_8.2.e002492.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2026834"},{"key":"2025090312430589000_8.2.e002492.2","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 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inspired treatment of VEXAS syndrome","volume":"58","author":"Heiblig","year":"2021","journal-title":"Semin Hematol"},{"key":"2025090312430589000_8.2.e002492.10","doi-asserted-by":"crossref","first-page":"3682","DOI":"10.1182\/blood.2020010177","article-title":"Therapeutic options in VEXAS syndrome: insights from a retrospective series","volume":"137","author":"Bourbon","year":"2021","journal-title":"Blood"},{"key":"2025090312430589000_8.2.e002492.11","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1016\/j.mayocp.2021.06.006","article-title":"Clinical heterogeneity of the VEXAS syndrome: a case series","volume":"96","author":"Koster","year":"2021","journal-title":"Mayo Clin Proc"},{"key":"2025090312430589000_8.2.e002492.12","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1182\/bloodadvances.2021004749","article-title":"Successful allogeneic hematopoietic stem cell transplantation in patients with VEXAS syndrome: a 2-center experience","volume":"6","author":"Diarra","year":"2022","journal-title":"Blood Adv"},{"key":"2025090312430589000_8.2.e002492.13","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/s41409-021-01544-y","article-title":"Allogeneic stem cell transplantation as a curative therapeutic approach for VEXAS syndrome: a case report","volume":"57","author":"Loschi","year":"2022","journal-title":"Bone Marrow Transplant"},{"key":"2025090312430589000_8.2.e002492.14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.391"},{"key":"2025090312430589000_8.2.e002492.15","article-title":"Mutant UBA1 and severe adult-onset autoinflammatory disease","volume":"22","author":"Arlet","year":"2021","journal-title":"N Engl J Med"},{"key":"2025090312430589000_8.2.e002492.16","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2021-220089"},{"key":"2025090312430589000_8.2.e002492.17","doi-asserted-by":"crossref","first-page":"e402","DOI":"10.1093\/rheumatology\/keab392","article-title":"VEXAS 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