Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report.
Ther Adv Respir Dis
; 17: 17534666231178690, 2023.
Article
en En
| MEDLINE
| ID: mdl-37329289
ABSTRACT
We present a case report of transbronchial cryobiopsy proven diffuse amyloid cystic lung disease complicating a homozygous Val122Ile (V122I) transthyretin mutated amyloidosis (ATTRm). To the best of our knowledge, this is the first case in the literature reporting such pulmonary lesions in ATTRm amyloidosis, and notably diagnosed through cryobiopsy. A 51-year-old man from Mali with a past medical history of bilateral carpal tunnel syndrome presented erectile dysfunction, asthenia and worsening dyspnoea over the past year. He presented signs of cardiac failure; histological and radiological investigations diagnosed cardiac amyloidosis. He was found homozygote for the V122I mutation in transthyretin. A diffuse cystic lung disease (DCLD) was noted on computed tomography (CT) scan. We performed a transbronchial pulmonary cryobiopsy that revealed histological transthyretin amyloid deposits. This case report illustrates the safety and usefulness of cryobiopsy in the setting of DCLD and extends ATTRm amyloidosis as a possible cause of DCLD.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Insuficiencia Cardíaca
/
Amiloidosis
/
Enfermedades Pulmonares
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Ther Adv Respir Dis
Asunto de la revista:
PNEUMOLOGIA
/
TERAPEUTICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
Francia