Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront

• Published in: Molecular medicine (Cambridge, Mass.) Vol. 30; no. 1; pp. 152 - 11
• Main Authors: Li, Xiao Xiao, Huang, Wen Hui, Yang, Xiao Bin, Yang, Qi Lin, Zheng, Yu, Huo, Yong Bao, Xie, Ting Ting, Huang, Cheng Hui, Yu, Shui Lian
• Format: Journal Article
• Language: English
• Published: England BioMed Central 17.09.2024; BMC
• Subjects: Autoimmune Diseases - diagnosis; Autoimmune Diseases - drug therapy; Autoimmune Diseases - genetics; Humans; IL-6 Inhibitors; Interleukin-6 - genetics; Interleukin-6 - metabolism; JAK–STAT; Janus Kinase Inhibitors - therapeutic use; Mini-Review; Mutation; Tocilizumab; Treatment; Ubiquitin-Activating Enzymes - antagonists & inhibitors; Ubiquitin-Activating Enzymes - genetics; VEXAS syndrome; VEXAS syndrome; JAK–STAT; Treatment; Tocilizumab; IL-6 Inhibitors
• ISSN: 1528-3658; 1076-1551; 1528-3658
• DOI: 10.1186/s10020-024-00922-8

VEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations. Delving into whether distinct genotypes yield varied clinical phenotypes in VEXAS patients, and the consequent adjustment of treatment strategies based on genotypic and clinical profiles necessitates thorough exploration within the clinical realm. Additionally, the current therapeutic landscape and future outlook are examined, with particular attention to the potential therapeutic roles of IL-6 inhibitors and JAK inhibitors, alongside an elucidation of prevailing limitations and avenues for further research. This study contributes essential theoretical groundwork and clinical insights for both diagnosing and managing VEXAS syndrome.