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Giant cell arteritis — SCE Rheumatology MCQ

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HardVasculitisGiant cell arteritisSCE Rheumatology

A 72-year-old man has recurrent fever, auricular chondritis, neutrophilic dermatosis and pulmonary infiltrates. He has macrocytic anaemia and thrombocytopenia; marrow sequencing detects UBA1 mosaicism. What is the diagnosis?

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Correct answer: A — VEXAS syndrome from somatic UBA1 variation

VEXAS is an acquired autoinflammatory syndrome caused by somatic UBA1 variants, typically in older men. The combination of severe inflammation, chondritis or neutrophilic disease and macrocytic cytopenia is characteristic and requires coordinated rheumatology and haematology treatment.

Reference: https://www.nice.org.uk/guidance/conditions-and-diseases/musculoskeletal-conditions