VEXAS syndrome presenting as diffuse alveolar haemorrhage.
BMJ Case Rep
; 17(3)2024 Mar 27.
Article
em En
| MEDLINE
| ID: mdl-38538102
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias Genéticas
/
Síndromes Mielodisplásicas
/
Hemoptise
/
Hemorragia
Limite:
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia