Pulmonary manifestation of VEXAS syndrome.
BMJ Case Rep
; 17(7)2024 Jul 22.
Article
en En
| MEDLINE
| ID: mdl-39038873
ABSTRACT
This case report presents the diagnostic journey of a man in his mid-70s who experienced shortness of breath, cough, recurrent episodes of fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis of cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen in the lung CT scan. The patient initially responded favourably to immunosuppression but experienced a recurrence of symptoms when the corticosteroid dose was tapered. Despite ongoing systemic inflammation and refractory symptoms, it took nearly a year to establish the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome. This case highlights the challenges in diagnosing and managing VEXAS syndrome due to its recent discovery and limited awareness in the medical community, as well as the need to consider this syndrome as a rare differential diagnosis of therapy-refractory pulmonary infiltrates.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tomografía Computarizada por Rayos X
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Suiza
Pais de publicación:
Reino Unido