VEXAS syndrome: Current clinical, diagnostic and treatment approaches

Intractable & Rare Diseases Research, Journal Year: 2023, Volume and Issue: 12(3), P. 170 - 179

Published: Aug. 17, 2023

VEXAS syndrome, is a hemato-inflammatory chronic disease characterized with predominantly rheumatic and hematologic systemic involvement. It was first described in 2020 by group of researchers the United States. syndrome rare condition that primarily affects adult males caused mutation UBA1 gene located on X chromosome. Its pathogenesis related to somatic affecting methionine-41 (p.Met41) UBA1, major E1 enzyme initiates ubiquitylation. Mutant lead decreased ubiquitination activated innate immune pathways inflammation occur. The specific mechanism which leads clinical features not yet fully understood. newly define adult-onset inflammatory manifested treatment-refractory fevers, arthritis, chondritis, vasculitis, cytopenias, typical vacuoles hematopetic precursor cells, neutrophilic cutaneous pulmonary inflammation. Diagnosing can be challenging due its rarity overlap symptoms other conditions. Genetic testing identify essential for definitive diagnosis. Currently, there no known cure treatment mainly focuses managing symptoms. This may involve use anti-inflammatory medications, immunosuppressive drugs, supportive therapies tailored individual patient's needs. Due recent discovery ongoing research being conducted better understand pathogenesis, features, potential options. In this review article, clinical, diagnostic approaches were evaluated light latest literature data.

Language: Английский

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Síndrome de VEXAS: manifestaciones clínicas, diagnóstico y tratamiento

Reumatología Clínica, Journal Year: 2023, Volume and Issue: 20(1), P. 47 - 56

Published: Nov. 25, 2023

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VEXAS syndrome: Clinical manifestations, diagnosis, and treatment

Reumatología Clínica (English Edition), Journal Year: 2023, Volume and Issue: unknown

Published: Dec. 1, 2023

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Role of allogeneic hematopoietic cell transplantation in VEXAS syndrome

Annals of Hematology, Journal Year: 2024, Volume and Issue: 103(11), P. 4427 - 4436

Published: Aug. 22, 2024

Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly diagnosed syndrome comprising severe systemic inflammatory and hematological manifestations including myelodysplastic plasma cell dyscrasia. Since its discovery four years ago, several groups have identified pleomorphic clinical phenotypes, but few effective medical therapies exist which include Janus Kinase (JAK) inhibitors, interleukin inhibitors (IL-1 IL-6), hypomethylating agents. Prospective trials are lacking at this time most patients remain corticosteroid dependent. has high morbidity from frequent life threatening symptoms risk of progression to malignancies an overall survival 50% 10 years. Allogeneic stem transplant (allo-HCT) curative option for disease caused by somatic mutations in the UBA1 gene. Here we outline role allo-HCT treating with syndrome, highlighting outcomes single-institution studies case reports. will be required precisely define management syndrome.

Language: Английский

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Somatic mutations in “benign” blood diseases

Seminars in Hematology, Journal Year: 2022, Volume and Issue: 59(3), P. 121 - 122

Published: July 1, 2022

Language: Английский

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