VEXAS syndrome: Current clinical, diagnostic and treatment approaches

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dc.contributor.authorKobak, Senol
dc.date.accessioned2024-05-19T14:50:20Z
dc.date.available2024-05-19T14:50:20Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractVEXAS syndrome, is a hemato-inflammatory chronic disease characterized with predominantly rheumatic and hematologic systemic involvement. It was first described in 2020 by a group of researchers in the United States. VEXAS syndrome is a rare condition that primarily affects adult males and is caused by a mutation in the UBA1 gene located on the X chromosome. Its pathogenesis is related to the somatic mutation affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation. Mutant gene lead to decreased ubiquitination and activated innate immune pathways and systemic inflammation occur. The specific mechanism by which the UBA1 mutation leads to the clinical features of VEXAS syndrome is not yet fully understood. VEXAS is a newly define adult-onset inflammatory syndrome manifested with treatment-refractory fevers, arthritis, chondritis, vasculitis, cytopenias, typical vacuoles in hematopetic precursor cells, neutrophilic cutaneous and pulmonary inflammation. Diagnosing VEXAS syndrome can be challenging due to its rarity and the overlap of symptoms with other inflammatory conditions. Genetic testing to identify the UBA1 gene mutation is essential for definitive diagnosis. Currently, there is no known cure for VEXAS syndrome, and treatment mainly focuses on managing the symptoms. This may involve the use of anti-inflammatory medications, immunosuppressive drugs, and supportive therapies tailored to the individual patient's needs. Due to the recent discovery of VEXAS syndrome, ongoing research is being conducted to better understand its pathogenesis, clinical features, and potential treatment options. In this review article, the clinical, diagnostic and treatment approaches of VEXAS syndrome were evaluated in the light of the latest literature data.en_US
dc.identifier.doi10.5582/irdr.2023.01020
dc.identifier.endpage179en_US
dc.identifier.issn2186-3644
dc.identifier.issn2186-361X
dc.identifier.issue3en_US
dc.identifier.pmid37662628en_US
dc.identifier.scopus2-s2.0-85174218805en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage170en_US
dc.identifier.urihttps://doi.org10.5582/irdr.2023.01020
dc.identifier.urihttps://hdl.handle.net/20.500.12713/5676
dc.identifier.volume12en_US
dc.identifier.wosWOS:001093510100005en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherInt Research & Cooperation Assoc Bio & Socio-Sciences Advancementen_US
dc.relation.ispartofIntractable & Rare Diseases Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.subjectVexas Syndromeen_US
dc.subjectClinicalen_US
dc.subjectDiagnositcen_US
dc.subjectTreatmenten_US
dc.subjectApproachesen_US
dc.titleVEXAS syndrome: Current clinical, diagnostic and treatment approachesen_US
dc.typeReview Articleen_US

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