VEXAS syndrome: a Swiss national retrospective cohort study DOI Creative Commons
Louis Wolff, Leo Caratsch, Fabian Lötscher

et al.

Schweizerische medizinische Wochenschrift, Journal Year: 2024, Volume and Issue: 155(3), P. 3879 - 3879

Published: March 14, 2024

STUDY AIMS: VEXAS syndrome is a recently discovered monogenic auto-inflammatory disease caused by somatic mutation in the UBA1 gene that manifests with rheumatologic and haematologic features. In this report, we present first Swiss cohort, detailing its manifestations treatment outcomes among patients. METHODS: Data were retrospectively collected from nine hospitals across Switzerland, representing broad geographic distribution. Treating physicians completed standardised case report form for each patient. The principal investigator co-investigators analysed all forms. RESULTS: We identified 23 patients between July 2022 2023, of which 17 are described. All male. They presented skin (88%), general symptoms (82%), venous thromboembolism (59%), ocular manifestation lung infiltrates (59%) articular (47%). Central nervous system kidney very rare, heart digestive absent. Macrocytic anaemia was throughout progression but only two-thirds (12/17, 71%) at time diagnosis. Clinical response reached cases treated ruxolitinib (4/4, 100%), upadacitinib (1/1, azacytidine (5/5, 100%) haematopoietic stem cell transplantation (2/2, 100%). deaths attributed to infections CONCLUSION: This study corroborates clinical spectrum described other cohorts. It suggests not limited macrocytic anaemia. study, has been used effectively myelodysplastic syndrome. addition, Janus kinase (JAK) inhibitors, particularly ruxolitinib, have successfully even those without two successful treatments transplantation.

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
Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives DOI Creative Commons

Jahnavi Aluri,

Megan A. Cooper

Seminars in Immunology, Journal Year: 2023, Volume and Issue: 67, P. 101761 - 101761

Published: April 14, 2023

Language: Английский

Citations

17
VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease DOI Open Access
Anis J. Saad, M.K. Patil, Nicolas Cruz

et al.

Experimental Dermatology, Journal Year: 2024, Volume and Issue: 33(3)

Published: March 1, 2024

Abstract VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late‐onset, disorder first identified in 2020. It caused by mutations the UBA1 gene. The most prominent clinical features reported patients are cutaneous haematological, having characteristic skin as initial presenting findings of disease. severe treatment‐resistant condition with high morbidity mortality rates. Here, we examine all case reports series through March 2023 focusing on those manifestations. We discuss these manifestations their treatment strategies. In many cases, it might be suspected diagnosed dermatologists, highlighting vital role initiating timely multidisciplinary care.

Language: Английский

Citations

7
Neurological manifestations in patients with VEXAS syndrome DOI
Charlotte Bert-Marcaz, Étienne Fortanier, Antoine Briantais

et al.

Journal of Neurology, Journal Year: 2025, Volume and Issue: 272(2)

Published: Feb. 1, 2025

Language: Английский

Citations

0
VEXAS Syndrome—Diagnostic Clues for the Dermatologist and Gaps in Our Current Understanding: A Narrative Review DOI Creative Commons
Lowell T. Nicholson, Edward W. Cowen, David B. Beck

et al.

JID Innovations, Journal Year: 2023, Volume and Issue: 4(1), P. 100242 - 100242

Published: Oct. 29, 2023

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome is a newly recognized, acquired autoinflammatory disorder with broad systemic implications and poor global prognosis. Because cutaneous lesions are present in the majority of those affected, it necessary that dermatologists equipped to recognize this important disease. Through identification, there greater opportunity for disease stratification, surveillance involvement, selection best available therapies. As our understanding develops, should also play role addressing knowledge gaps exist.

Language: Английский

Citations

5
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases DOI Creative Commons
Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho

et al.

npj Genomic Medicine, Journal Year: 2024, Volume and Issue: 9(1)

Published: Nov. 28, 2024

The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact. To address this, we enrolled 232 adult probands with conditions, utilizing bioinformatics tools for genetic analysis. Alongside exome and genome sequencing, repeat-primed PCR Cas9-mediated nanopore sequencing were applied suspected short tandem repeat disorders. Probands classified into probable (n = 128) or uncertain 104) origins. study found causes 66 individuals (28.4%) non-genetic 12 (5.2%), a longer diagnostic journey those the group pediatric symptom onset, emphasizing need increased efforts these populations. Genetic diagnoses facilitated effective surveillance, cascade screening, drug repurposing, pregnancy planning. This demonstrates that integrating technologies improves accuracy, may shorten time diagnosis, enhances personalized management adults diseases.

Language: Английский

Citations

0
VEXAS syndrome: a Swiss national retrospective cohort study DOI Creative Commons
Louis Wolff, Leo Caratsch, Fabian Lötscher

et al.

Schweizerische medizinische Wochenschrift, Journal Year: 2024, Volume and Issue: 155(3), P. 3879 - 3879

Published: March 14, 2024

STUDY AIMS: VEXAS syndrome is a recently discovered monogenic auto-inflammatory disease caused by somatic mutation in the UBA1 gene that manifests with rheumatologic and haematologic features. In this report, we present first Swiss cohort, detailing its manifestations treatment outcomes among patients. METHODS: Data were retrospectively collected from nine hospitals across Switzerland, representing broad geographic distribution. Treating physicians completed standardised case report form for each patient. The principal investigator co-investigators analysed all forms. RESULTS: We identified 23 patients between July 2022 2023, of which 17 are described. All male. They presented skin (88%), general symptoms (82%), venous thromboembolism (59%), ocular manifestation lung infiltrates (59%) articular (47%). Central nervous system kidney very rare, heart digestive absent. Macrocytic anaemia was throughout progression but only two-thirds (12/17, 71%) at time diagnosis. Clinical response reached cases treated ruxolitinib (4/4, 100%), upadacitinib (1/1, azacytidine (5/5, 100%) haematopoietic stem cell transplantation (2/2, 100%). deaths attributed to infections CONCLUSION: This study corroborates clinical spectrum described other cohorts. It suggests not limited macrocytic anaemia. study, has been used effectively myelodysplastic syndrome. addition, Janus kinase (JAK) inhibitors, particularly ruxolitinib, have successfully even those without two successful treatments transplantation.

Language: Английский

Citations

0