VEXAS syndrome is a recently identified autoinflammatory disorder resulting from somatic mutations in the UBA1 gene, leading to a complex spectrum of severe inflammatory and hematologic manifestations. The absence of established treatment guidelines and the variability in clinical presentation make its management particularly challenging. Current therapeutic approaches are often based on limited evidence, and their effectiveness remains inconsistent. This review seeks to consolidate the existing knowledge on therapeutic strategies for VEXAS syndrome, offering a critical evaluation of their efficacy and addressing the gaps in the current literature. As the clinical recognition of VEXAS grows, there is an urgent need to explore more targeted, effective treatments that can address both the inflammatory and hematologic aspects of the disease. By providing a comprehensive analysis of the current therapeutic landscape, this review aims to guide clinicians and researchers toward developing more effective, long-term management strategies for this life-threatening condition.
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| http://dx.doi.org/10.3390/jcm13226970 | DOI Listing |
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Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE).
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View Article and Find Full Text PDF[New Advances in the Study of VEXAS Syndrome --Review].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Hematology, Zhongda Hospital Affiliated to Southeast University, Nanjing 210009, Jiangsu Province, China.
Article Synopsis
- VEXAS syndrome is an adult-onset autoinflammatory disorder linked to somatic mutations in the X-linked gene affecting the ubiquitin system.
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- Current treatments focus on managing symptoms and mutations but are not well-developed, emphasizing the need for supportive care and risk factor management.
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December 2024
Service de médecine interne, CHI Poissy-St Germain, 10, rue du Champs Gaillard, 78300 Poissy, France.
Introduction: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), recently described, due to a somatic mutation of the UBA1 gene and often associated with hemopathy, is characterized by systemic symptoms close to those described in Still's disease or relapsing polychondritis. There are also patients with hemopathy, presenting inflammatory symptoms reminiscent of those of VEXAS syndrome but without mutation of the UBA1 gene.
Case/discussion: Two male patients consulted for general signs, dermatological symptoms, arthralgia, chondritis and venous thrombosis, like patients in the French cohort suffering from VEXAS syndrome.
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Department of Dermatology, Venereology and Leprology; Postgraduate Institute of Medical Education and Research; Chandigarh, India.
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- Autoinflammatory disorders are characterized by an exaggerated response of the innate immune system, primarily involving neutrophils and macrophages, and are differentiated from connective tissue diseases by the absence of anti-nuclear antibodies.
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- The review focuses on the cutaneous manifestations of various acquired autoinflammatory disorders, including adult-onset Still's disease and Schnitzler syndrome, which have significant diagnostic implications.
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