AJHE2403 - CME/CMLE - How Do I Diagnose and Manage VEXAS Syndrome-How Do I Diagnose and Manage VEXAS Syndrome

How Do I Diagnose and Manage VEXAS Syndrome

Pdf Summary

VEXAS syndrome is a rare adult-onset autoinflammatory disorder associated with a mutation in the UBA1 gene, leading to inflammation and cytopenias. It presents with symptoms like fever, skin lesions, and arthritis, often mimicking other conditions. Diagnosis involves UBA1 mutational testing and differentiation from similar disorders like myelodysplastic neoplasms. Treatment is challenging, with steroids being the mainstay and stem cell transplant as a potential cure. A case study highlighted the diagnostic journey of a patient with various symptoms, genetic variations, and eventual confirmation of VEXAS syndrome. Management involves tailored approaches, high-dose steroids, and possibly allo-HSCT in severe cases. Collaborative efforts among healthcare professionals are crucial for accurate diagnosis and individualized treatment. Further research is required to establish standardized management guidelines for this complex syndrome.

Keywords

VEXAS syndrome

autoinflammatory disorder

UBA1 gene mutation

inflammation

cytopenias

diagnosis

treatment

steroids

stem cell transplant

management