Progressive macrocytic anaemia over 14 years leading to the diagnosis of VEXAS syndrome in a patient initially diagnosed with adult-onset Still's disease.

Abstract excerpt

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognised autoinflammatory disease caused by somatic mutations in UBA1. Its clinical features include recurrent fever, systemic inflammation affecting multiple organs, and progressive haematologic abnormalities such as macrocytic anaemia. Because these manifestations overlap with other autoinflammatory diseases, including...

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