VEXAS Syndrome Presenting As Diffuse Alveolar Haemorrhage

Overview

Journal BMJ Case Rep

Specialty General Medicine

Date 2024 Mar 27

PMID 38538102

Authors

Fayaz Ahmad Sofi

Shaariq Mehraj Naqati

Mushtaq Ahmad

Muzaffar Bindroo

Affiliations

Soon will be listed here.

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.

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