VEXAS syndrome: A review on clinical manifestations DOI Open Access
Bedanta Roy, Juliet Othieno, N. Jasmine Fauzee

et al.

Journal of Biomedical Sciences, Journal Year: 2023, Volume and Issue: 10(2), P. 40 - 48

Published: Dec. 31, 2023

Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified progressive, adult-onset, inflammatory disorder. Somatic mutations in the Ubiquitin-like modifier activating enzyme 1 (UBA1) gene at methionine-41 (p. Met41) were found patients. Clinical presentations are not limited to hematological and immunological systems; all organ systems affected by syndrome. The aim of this review summarise scientific evidence accrued from research studies on syndrome, highlighting clinical features involvements different systems. Conclusion: Although primary manifestations affect haematological systems, they gradually other systems. Distinct necessitate ruling out possibilities that will be helpful for early diagnosis. More should carried global community collaborative manner better understanding diagnosis

Language: Английский

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
VEXAS syndrome: A newly identified X-Linked hematoinflammatory disorder – A comprehensive overview of its genetic, molecular, inflammatory, and clinical landscape DOI
Alpana Singh, Rishabh Chaudhary

Journal of Autoimmunity, Journal Year: 2025, Volume and Issue: 154, P. 103425 - 103425

Published: April 29, 2025

Language: Английский

Citations

0
A Vexing diagnosis: A case report on VEXAS syndrome DOI

Charles A. Bryan,

Lee Fidler

Canadian Journal of Respiratory Critical Care and Sleep Medicine, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 4

Published: March 6, 2025

Citations

0
Otorhinolaryngological manifestations of autoinflammatory diseases. Systematic review DOI

María Victoria Mallo-Miranda,

Carmelo Morales‐Angulo

Acta Otorrinolaringológica Española, Journal Year: 2025, Volume and Issue: 76(2), P. 116 - 129

Published: March 1, 2025

Language: Английский

Citations

0
Emerging treatment approaches for VEXAS syndrome: a systematic review and meta-analysis DOI Creative Commons
Berkay Kılıç,

Efe Sacin,

Muhammet Kadir Tanin

et al.

Annals of Hematology, Journal Year: 2025, Volume and Issue: unknown

Published: April 27, 2025

Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a monogenic autoinflammatory disorder with significant morbidity and mortality. Numerous treatment options including azacitidine, JAK inhibitors, IL-6 anti-IL-1, anti-TNF agents have been proposed. However, no consensus on optimal algorithm has reached. This study aims to evaluate the efficacy safety of medical through meta-analysis existing data help establish clearer guidelines for managing VEXAS. The protocol was registered in PROSPERO (CRD42024590134). MEDLINE EMBASE were screened from inception until March 2025. We included patients who received or agents. primary outcome proportion complete responders. Partial response reported adverse events also evaluated. A total 16 studies 367 included. Concomitant myelodysplastic (MDS) 149 (40.6%) patients. Azacitidine resulted partial 67% [95% CI (0.56,0.77)] 73% (0.64,0.82)] cases, respectively. inhibitors produced 42% (0.33,0.52)] 79% (0.71,0.87)]. led 24% (0.15,0.32)] 72% (0.64,0.81)]. Adverse frequently observed. demonstrated MDS. may be viable options. Prospective clinical trials are needed further confirmation results.

Language: Английский

Citations

0
VEXAS syndrome: a new discovered systemic rheumatic disorder DOI Creative Commons
Eugeniusz J. Kucharz

Reumatologia/Rheumatology, Journal Year: 2023, Volume and Issue: 61(2), P. 123 - 129

Published: May 10, 2023

VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The affects primarily males, and leads to death of a significant proportion the patients. caused by somatic mutation <i>UBA1</i><i> gene</i> in hematopoietic progenitor cells. clinical picture consists number organ manifestations including those akin rheumatic diseases, arthritis, myalgia, vasculitis chondritis.

Language: Английский

Citations

7
Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review DOI
Koushan Kouranloo, Mrinalini Dey, Jude Almutawa

et al.

Rheumatology International, Journal Year: 2023, Volume and Issue: 44(7), P. 1219 - 1232

Published: Dec. 21, 2023

Language: Английский

Citations

7
Case report: VEXAS as an example of autoinflammatory syndrome in pulmonology clinical practice DOI Creative Commons
Ewa Więsik‐Szewczyk, Arkadiusz Żegadło, Agnieszka Sobczyńska‐Tomaszewska

et al.

Frontiers in Medicine, Journal Year: 2024, Volume and Issue: 11

Published: Jan. 26, 2024

Lung involvement is not widely recognized as a complication of auto-inflammatory diseases. We present broad approach to diagnose severe form autoinflammatory syndrome in an adult male patient. A 63-year-old Caucasian presented with recurrent episodes high fever, interstitial lung infiltration, and pleural effusion. Laboratory tests performed during the flares revealed lymphopenia increased levels C-reactive protein ferritin. Broad diagnostic research on infections, connective tissue diseases, malignancies yielded negative results. The patient’s symptoms promptly resolved upon administration glucocorticoids; however, they reappeared when prednisone dose was reduced. All attempts administer immunomodulatory immunosuppressive medications were ineffective. During follow-up, suspected; no pathological variants monogenic diseases identified by genome-exome sequencing. patient did respond interleukin 1 blockade anakinra. He died due multi-organ failure, his condition remained unresolved until first reported description vacuole, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS). describe traps reasoning process involved establishing that nature based clinical symptoms, addition proof concept gained from genetic reevaluation identification pathogenic UBA1 gene. aim this review increase awareness VEXAS among pulmonologists. Genetic screening for should be considered patients pneumonitis unknown origin elevated inflammatory markers signs cytopenia, especially if require chronic steroids control disease. Respiratory manifestations are part VEXAS; these may dominant course disease at presentation.

Language: Английский

Citations

2
VEXAS and Myelodysplastic Syndrome: An Interdisciplinary Challenge DOI Open Access
Virginie Kreutzinger, Anne Pankow, Zhivana Boyadzhieva

et al.

Journal of Clinical Medicine, Journal Year: 2024, Volume and Issue: 13(4), P. 1049 - 1049

Published: Feb. 12, 2024

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized systemic autoinflammatory disease caused by somatic mutations in hematopoietic progenitor cells. This case series of four patients with and comorbid myelodysplastic (MDS) aims to describe clinical, imaging, hematologic presentations as well response therapy. Four MDS are described. A detailed analysis imaging features, hemato-oncological presentation including bone marrow microscopy clinical–rheumatological features treatment outcomes given. All were male; ages ranged between 64 81 years; all diagnosed MDS. CT was available for three patients, whom exhibited pulmonary infiltrates varying severity, resembling COVID-19 or hypersensitivity pneumonitis without traces scarring. Bone showed maturation-disordered erythropoiesis pathognomonic vacuolation. Somatic mutation the UBA1 codon 41 found next-generation sequencing. Therapy regimes included glucocorticoids, JAK1/2-inhibitors, nucleoside analogues, IL-1 IL-6 receptor antagonists. No fatalities occurred (observation period from symptom onset: 18–68 months). Given potential underreporting syndrome, we highly recommend contemporary screening presenting ambiguous signs symptoms which persist over 18 months despite treatment. The emergence cytopenia, especially macrocytic hyperchromic anemia, should prompt early testing mutations. Notably conspicuous, alterations therapy-resistant be discussed interdisciplinary medical teams (Rheumatology, Hematology, Radiology further specialist departments) facilitate timely diagnosis during clinical course disease.

Language: Английский

Citations

2
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

Citations

2