Light-chain cardiac amyloidosis for the non-expert: pearls and pitfalls.
Intern Emerg Med
; 18(7): 1879-1886, 2023 10.
Article
em En
| MEDLINE
| ID: mdl-37338717
ABSTRACT
Cardiac amyloidosis (CA) is an uncommon, progressive, and fatal disease; the two main forms that can affect the heart are transthyretin CA and light chain CA (AL-CA). AL-CA is a medical urgency for which a diagnostic delay can be catastrophic for patients' outcome. In this manuscript, we focus on the pearls and pitfalls that are relevant to achieve a correct diagnosis and to avoid diagnostic and therapeutical delays. Through the aid of three unfortunate clinical cases, some fundamental diagnostic aspects are addressed, including the following first, a negative bone scintigraphy does not exclude CA, with patients with AL-CA frequently showing no or mild cardiac uptake, and its execution should not delay hematological tests; second, fat pad biopsy does not have a 100% sensitivity for AL amyloidosis and, if negative, further investigations should be performed, particularly if the pre-test probability is high. Third, Congo Red staining is not sufficient to reach a definitive diagnosis and amyloid fibrils typing with mass spectrometry, immunohistochemistry, or immunoelectron microscopy is crucial. To achieve a timely and correct diagnosis, all the necessary investigations must be performed, always considering the yield and diagnostic accuracy of each examination.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Amiloidose de Cadeia Leve de Imunoglobulina
/
Amiloidose
/
Cardiomiopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Intern Emerg Med
Assunto da revista:
MEDICINA DE EMERGENCIA
/
MEDICINA INTERNA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália