ImmunoTea: Your Immunology Podcast
ImmunoTea Episode 15 - VEXAS Syndrome
Mar 19, 2024
In this episode, Lara and Vyanka discuss the rare VEXAS syndrome with Prof Sinisa Savic, exploring its symptoms, genetic mutations, and diagnostic challenges. They also touch on the role of somatic mutations in inflammatory diseases, showcasing the importance of personalized medicine and genetic breakthroughs in disease management.
40:08
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Quick takeaways
- VEXAS Syndrome is a rare inflammatory disorder in elderly patients with acquired genetic changes affecting immune and hematological systems.
- Understanding somatic mutations in UBA1 gene leading to VEXAS helps diagnose and explore targeted treatment options for inflammatory manifestations.
Deep dives
VEXAS: Understanding the Newly Discovered Inflammatory Disorder
VEXAS is a rare inflammatory disorder primarily affecting elderly patients due to acquired changes in genetic codes that lead to disease pathogenesis. The name VEXAS stands for vacuoles, E for E1 ubiquitin enzyme, X for X-linked gene, A for auto-inflammatory features, and S for somatic mutations. The disorder presents with nonspecific inflammatory manifestations like fever, weight loss, and malaise, along with hematological issues like anemia and thrombotic events, often resembling myelodysplastic syndrome.
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