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Published on: April 7, 2023
VEXAS syndrome presenting as diffuse alveolar haemorrhage
Fayaz Ahmad Sofi1, Shaariq Mehraj Naqati2, Mushtaq Ahmad1
1General Medicine, Division of Rheumatology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India.
None:
We report the case of a man in his late 30s who presented with a history of breathlessness and cough with haemoptysis. Complete blood counts revealed pancytopenia. High-resolution CT showed diffuse bilateral ground glass opacities. Sequential bronchoalveolar lavage confirmed alveolar haemorrhage. Bone marrow aspiration showed vacuoles in erythroid and myeloid precursor cells. The genome was sequenced, and the UBA1 gene revealed a c.121 A>G mutation (p.Met41Val), confirming vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The patient was managed with high-dose prednisolone pulse therapy. He improved with the complete resolution of the alveolar haemorrhage and an improvement in lung function and cytopenias.
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