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Updated: Aug 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[VEXAS gene variants explain previously unrecognized clinical syndrome]
Mads Nyhuus Bendix Rasch1, Fruzsina Szabados2, Jens Magnus Bernth Jensen3
1Led- og Bindevævssygdomme, Aarhus Universitetshospital.
Abstract:
This review aims to make clinicians aware of the newly described syndrome, VEXAS. VEXAS should become an obvious differential diagnosis in cases of unexplained inflammation, anemia, and rheumatological and/or hematological manifestations. Patients with VEXAS are typically male aged > 60, with inflammation, and macrocytic anaemia. On suspicion of cancer or infections patients have frequently been exposed to extensive diagnostic procedures and hospital admissions. In this review, we summarise the current knowledge of VEXAS regarding pathogenesis, symptoms, diagnosis, and treatment.
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