VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic): clinical review in a rapidly emerging field DOI
Luan Phan, Danielle Hammond, Nathaniel R. Wilson

et al.

Leukemia & lymphoma/Leukemia and lymphoma, Journal Year: 2024, Volume and Issue: 65(9), P. 1245 - 1257

Published: May 21, 2024

VEXAS syndrome is a recently described entity characterized by systemic inflammatory and hematologic manifestations. The disease was first Beck et al. in 2020 study characterizing 25 patients with undiagnosed adult-onset syndromes. While the literature regarding has grown exponentially since 2020, there still much to be understood. This lack of information leads challenges both diagnosis treatment syndrome. Patients will often have variety clinical symptoms that can lead missed or delayed diagnoses. Additionally, awareness developing among clinicians. In this comprehensive review, we summarize current syndrome, explore updates emerging state. Our aim review increase new state identify research areas better understand future approaches for

Language: Английский

How to treat VEXAS syndrome: a systematic review on effectiveness and safety of current treatment strategies DOI
Zhivana Boyadzhieva, Nikolas Ruffer, Ina Kötter

et al.

Lara D. Veeken, Journal Year: 2023, Volume and Issue: 62(11), P. 3518 - 3525

Published: May 26, 2023

Abstract Objectives To evaluate the effectiveness and safety of current treatment strategies for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Methods A protocolized systematic review according to Preferred Reporting Items Systematic Reviews Meta-Analyses (PRISMA) guidelines was performed. Three databases were searched reports on VEXAS. Data from included publications extracted a narrative synthesis Treatment response recorded as complete (CR), partial (PR) or none (NR) depending changes in clinical symptoms laboratory parameters. Patient characteristics, data previous treatments analysed. Results We identified 36 with total 116 patients; 113 (98.3%) male. The azacytidine (CR 9/36, 25%; PR 14/36, 38.9%), Janus kinase inhibitors (JAKi) 11/33, 33%; 9/33, 27.3%), tocilizumab 3/15, 20%; 6/15, 40%), allogeneic stem cell transplantation 6/7, 85.7%; one patient died), anakinra 4/5, 80%; NR 1/5, 20%), canakinumab 1/2, 50%; 50%) glucocorticoid monotherapy 1/6, 16.7%; 4/6, 66.7%). Individual available TNF inhibitors, rituximab MTX. adverse events 67 patients (67/116, 57.8%) included: pneumonia (12/67, 17.9%), other infections (9/67, 13.4%), venous thromboembolisms (6/67, 8.9%), cytopenias (4/67, 5.9%), acute 5.9%) chronic graft-vs-host-disease (2/67, 2.9%). Conclusion Current VEXAS are limited inhomogeneous. decisions should be individualized. For devolvement algorithms trials needed. Adverse remain challenge, especially an elevated risk thromboembolism associated JAKi carefully considered.

Language: Английский

Citations

55
Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX DOI
Jérôme Hadjadj, Yann Nguyen,

Dalila Mouloudj

et al.

Annals of the Rheumatic Diseases, Journal Year: 2024, Volume and Issue: 83(10), P. 1358 - 1367

Published: May 22, 2024

Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset disease associated with ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy safety of targeted therapies.

Language: Английский

Citations

16
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases DOI Creative Commons
Antonio Vitale, Valeria Caggiano,

Antonio Bimonte

et al.

Internal and Emergency Medicine, Journal Year: 2023, Volume and Issue: 18(3), P. 711 - 722

Published: Jan. 20, 2023

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described pathological entity. It an acquired monogenic autoinflammatory disease caused by somatic mutations of the UBA1 gene in blood cells precursors; encodes one two enzyme isoforms that initiates ubiquitylation cell's cytoplasm. leads to systemic inflammation, with all organs and tissues potentially involved. The clinical picture may be extremely heterogenous, mimicking different other rheumatologic entities coexisting haematological disorders, especially myelodysplastic syndrome. This new represents very intriguing condition several respects: it accounts for paradigm adult-onset diseases determined genetic mosaicism resulting development challenging multiorgan inflammatory condition. Moreover, perhaps not exceptionally rare example drawing its origin bone marrow disorders. should strongly considered each adult patient unexplained condition, when recurrent fevers, neutrophilic dermatosis, relapsing polychondritis, ocular inflammation symptoms accompanying or deserves multidisciplinary approach reach diagnosis ensure best management To quickly describe course, long-term outcomes, optimal this essential join forces internationally. end, international AutoInflammatory Disease Alliance (AIDA) registry dedicated has been developed already active.

Language: Английский

Citations

32
Pulmonary manifestations in VEXAS syndrome DOI
Marta Casal Moura,

Misbah Baqir,

Yasmeen K. Tandon

et al.

Respiratory Medicine, Journal Year: 2023, Volume and Issue: 213, P. 107245 - 107245

Published: April 14, 2023

Language: Английский

Citations

27
Relapsing polychondritis: clinical updates and new differential diagnoses DOI

Philippe Mertz,

N. Costedoat‐Chalumeau,

Marcela A. Ferrada

et al.

Nature Reviews Rheumatology, Journal Year: 2024, Volume and Issue: 20(6), P. 347 - 360

Published: May 2, 2024

Language: Английский

Citations

10
Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan DOI Creative Commons
Yosuke Kunishita, Yohei Kirino, Naomi Tsuchida

et al.

Frontiers in Immunology, Journal Year: 2022, Volume and Issue: 13

Published: June 13, 2022

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by variants in the UBA1 gene that lead to severe systemic inflammation and myelodysplastic syndrome. Although no standard therapy has been established yet, azacitidine bone marrow transplantation have reported be promising possibilities; however, indications for these treatments are problematic not necessarily applicable all patients. We previously results of short-term treatment with tocilizumab (TCZ) glucocorticoids three patients VEXAS In this paper, we report combination TCZ allowed continue at least one year without significant progression. Glucocorticoids were able reduced from start TCZ. Adverse events herpes zoster, skin ulceration after cellulitis, decreased blood counts. The suggest significance as a bridge development future therapies.

Language: Английский

Citations

36
Update on VEXAS and role of allogeneic bone marrow transplant: Considerations on behalf of the Chronic Malignancies Working Party of the EBMT DOI
Carmelo Gurnari, Donal P. McLornan

Bone Marrow Transplantation, Journal Year: 2022, Volume and Issue: 57(11), P. 1642 - 1648

Published: Aug. 8, 2022

Language: Английский

Citations

33
Pulmonary manifestations in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome: a systematic review DOI Creative Commons
Koushan Kouranloo,

Athea Ashley,

Sizheng Steven Zhao

et al.

Rheumatology International, Journal Year: 2023, Volume and Issue: 43(6), P. 1023 - 1032

Published: Jan. 8, 2023

Abstract Background VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is a newly described auto-inflammatory disease. Many cases feature pulmonary infiltrates or respiratory failure. This systematic review aimed to summarize manifestations in date. Methods Databases were searched for articles discussing until May 2022. The research question was: What are the patients with syndrome? search was restricted English language and those clinical presentation of Information on basic demographics, type prevalence manifestations, co-existing disease associations author conclusions involvement extracted. protocol registered PROSPERO register reviews. Results Initially, 219 retrieved 36 ultimately included (all case reports series). A total 269 included, 98.6% male, mean age 66.8 years at onset. most frequently manifestation (43.1%; n = 116), followed by pleural effusion (7.4%; 20) idiopathic interstitial pneumonia (3.3%; 9). Other were: nonspecific ( 1), bronchiolitis obliterans 3), vasculitis 6), bronchiectasis alveolar haemorrhage embolism 4), bronchial stenosis alveolitis 1). Several had one more autoimmune/inflammatory condition. It not reported which particular manifestations. Conclusion first undertaken patients. Our results demonstrate that common this patient group. unclear if part primary Larger epidemiological analyses will aid further characterisation management.

Language: Английский

Citations

22
VEXAS syndrome: An update DOI
Mohamed-Yacine Khitri, Jérôme Hadjadj, A. Mékinian

et al.

Joint Bone Spine, Journal Year: 2024, Volume and Issue: 91(4), P. 105700 - 105700

Published: Feb. 1, 2024

Language: Английский

Citations

8
Recurrent orbital inflammation associated with VEXAS syndrome DOI
Mark Beecher, Jessica Y. Tong, Luke Halliday

et al.

Orbit, Journal Year: 2022, Volume and Issue: 43(3), P. 350 - 353

Published: Sept. 27, 2022

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly recognised adult-onset multisystem autoinflammatory disease caused by somatic mutation in the

Language: Английский

Citations

24