VEXAS (Vacuoles, E-1 enzyme, X-linked, Auto-inflammatory, Somatic) is a newly discovered haemato-immune disease that was first described in 2020. It results from an acquired, somatic mutation of the UBA1 gene resulting in impaired ubiquitylation with resultant fever, cytopenia, neutrophilic dermatosis, pulmonary infiltrates, chondritis and vasculitis. It occurs almost exclusively in men with a median age of onset of 64. Presence of vacuoles in myeloid precursor cells is a universal finding on bone marrow aspiration. Severe cases will progress to develop myelodysplastic syndrome (MDS). The disease is associated with a high mortality and treatment pathways have yet to be fully defined.
In this article I will describe a recent case encountered at the Mater Misericordiae University Hospital. I describe how genomics was used to discover VEXAS and how this discovery will have important implications for disease discovery in general. Finally I will outline the various ways in which VEXAS can present and discuss potential treatment options.
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