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VEXAS syndrome presenting as diffuse alveolar haemorrhage
  1. Fayaz Ahmad Sofi1,
  2. Shaariq Mehraj Naqati2,
  3. Mushtaq Ahmad1 and
  4. Muzaffar Bindroo1
  1. 1General Medicine, Division of Rheumatology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India
  2. 2General Medicine, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India
  1. Correspondence to Dr Shaariq Mehraj Naqati; shaariqnaqati{at}gmail.com

Abstract

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.

  • Rheumatology
  • Haematology (incl blood transfusion)

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Footnotes

  • Twitter @shaariq_naqati

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results and critical revision for important intellectual content: FAS, SMN, MA and MB. The following authors gave final approval of the manuscript: FAS, SMN, MA and MB.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.