Severe Joint Involvement in VEXAS Syndrome: A Case Report

LettersJuly 2021Severe Joint Involvement in VEXAS Syndrome: A Case ReportValentin Lacombe, MD, Olivier Kosmider, MD, PhD, Matthieu Prévost, MD, Christian Lavigne, MD, MSc, and Geoffrey Urbanski, MD, MScValentin Lacombe, MDAngers University Hospital, Angers, FranceSearch for more papers by this author, Olivier Kosmider, MD, PhDAssistance Publique-Hôpitaux de Paris, Cochin Institute, Paris, FranceSearch for more papers by this author, Matthieu Prévost, MDAngers University Hospital, Angers, FranceSearch for more papers by this author, Christian Lavigne, MD, MScAngers University Hospital, Angers, FranceSearch for more papers by this author, and Geoffrey Urbanski, MD, MScAngers University Hospital, Angers, FranceSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/L21-0023 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: Beck and colleagues (1) recently described a new, adult-onset, inflammatory disorder named VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Their report identified 25 male patients aged 45 to 80 years with somatic mutations affecting the X-linked gene UBA1 and who had similar clinical features that included fever, neutrophilic dermatosis or cutaneous vasculitis, pulmonary infiltrates, ear and nose chondritis, venous thromboembolism, macrocytic anemia, bone marrow vacuoles, and biological signs of inflammation.Objective: To report a case of VEXAS syndrome in a patient with joint involvement, which was not detailed in the initial description of this syndrome.Case Report: We ...References1. Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628-2638. [PMID: 33108101] doi:10.1056/NEJMoa2026834 CrossrefMedlineGoogle Scholar2. Glaser C, Rieg S, Wiech T, et al. Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure. Orphanet J Rare Dis. 2017;12:99. [PMID: 28545554] doi:10.1186/s13023-017-0630-4 CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Angers University Hospital, Angers, FranceAssistance Publique-Hôpitaux de Paris, Cochin Institute, Paris, FranceAngers University Hospital, Angers, FranceAcknowledgment: The authors thank Dr. Franck Genevieve from the Laboratory of Hematology, University Hospital of Angers, for providing the pictures of bone marrow analysis; Dr. Yannick Le Corre for his dermatologic expertise; and Professor Béatrice Bouvard and Dr. Mathieu Royer from the Department of Rheumatology, University Hospital of Angers, for help with the rheumatologic assessment.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L21-0023.Corresponding Author: Geoffrey Urbanski, MD, MSc, Department of Internal Medicine, Angers University Hospital, 4 rue Larrey, 49000 Angers, France; e-mail, [email protected]com.This article was published at Annals.org on 30 March 2021. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byAccurate stratification between VEXAS syndrome and differential diagnoses by deep learning analysis of peripheral blood smearsDistinction between clonal and paraclonal cutaneous involvements in VEXAS syndromeRecurrent orbital inflammation associated with VEXAS syndromeDisorders of ubiquitylation: unchained inflammationComparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patientsEar, Nose, Throat, and Bronchial Involvements in VEXAS SyndromeFurther characterization of clinical and laboratory features in VEXAS syndrome: large‐scale analysis of a multicentre case series of 116 French patients*VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) for the dermatologistUBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature reviewVEXAS Syndrome—A Review of Pathophysiology, Presentation, and PrognosisVEXAS within the spectrum of rheumatologic diseaseLooking beyond VEXAS: Coexistence of undifferentiated systemic autoinflammatory disease and myelodysplastic syndromeThrombotic manifestations of VEXAS syndromeCharacteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndromeVacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold July 2021Volume 174, Issue 7Page: 1025-1027KeywordsAnemiaArthritisBone marrowLesionsMethotrexateNecrosisPneumoniaSkin diseasesSomatic mutationVenous thromboembolism ePublished: 30 March 2021 Issue Published: July 2021 Copyright & PermissionsCopyright © 2021 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...