Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Cardiac amyloidosis
Clinical characteristics
Cohort study
Epidemiological characteristics
Journal
Archives of cardiovascular diseases
ISSN: 1875-2128
Titre abrégé: Arch Cardiovasc Dis
Pays: Netherlands
ID NLM: 101465655
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
13
02
2023
revised:
07
07
2023
accepted:
17
07
2023
pubmed:
29
8
2023
medline:
29
8
2023
entrez:
28
8
2023
Statut:
ppublish
Résumé
Early cardiac amyloidosis (CA) diagnosis enables patients to access effective treatments for better long-term outcomes, yet it remains under-recognised, misdiagnosed and inadequately managed. To reduce diagnostic delays, we aimed to describe the epidemiological and clinical characteristics and changes over an 11-year period. This was a retrospective, observational cohort study of all patients referred to the Henri-Mondor Hospital for suspected CA. Overall, 3194 patients were identified and 3022 were included and analysed. Our patients came from varied ethnic backgrounds, and more than half (55.2%) had confirmed CA. Over 11 years, referrals increased 4.4-fold, mostly from cardiologists. Notably, wild-type transthyretin amyloidosis (ATTRwt) became the predominant diagnosis, with referrals increasing 15-fold from 20 in 2010-2012 to 308 in 2019-2020. The number of amyloid light chain (AL) diagnoses increased, whilst variant transthyretin amyloidosis (ATTRv) numbers remained relatively stable. Concerning disease severity, AL patients presented more frequently with severe cardiac involvement whereas an increasing number of ATTRwt patients presented with National Amyloid Centre stage I (22.0% in 2013-2014 to 45.9% in 2019-2020). Lastly, among patients diagnosed with ATTRv in 2019-2020, 83.9% had ATTR Val122Ile cardiac phenotype. This study shows that increasing cardiologist awareness and referrals have increased CA diagnoses. With improved awareness and non-invasive diagnostic techniques, more patients with ATTRwt with milder disease and more ATTRv Val122Ile mutations are being referred and diagnosed. Although more AL cases are being recognised, patients are diagnosed with severe cardiac involvement.
Sections du résumé
BACKGROUND
BACKGROUND
Early cardiac amyloidosis (CA) diagnosis enables patients to access effective treatments for better long-term outcomes, yet it remains under-recognised, misdiagnosed and inadequately managed.
AIM
OBJECTIVE
To reduce diagnostic delays, we aimed to describe the epidemiological and clinical characteristics and changes over an 11-year period.
METHODS
METHODS
This was a retrospective, observational cohort study of all patients referred to the Henri-Mondor Hospital for suspected CA.
RESULTS
RESULTS
Overall, 3194 patients were identified and 3022 were included and analysed. Our patients came from varied ethnic backgrounds, and more than half (55.2%) had confirmed CA. Over 11 years, referrals increased 4.4-fold, mostly from cardiologists. Notably, wild-type transthyretin amyloidosis (ATTRwt) became the predominant diagnosis, with referrals increasing 15-fold from 20 in 2010-2012 to 308 in 2019-2020. The number of amyloid light chain (AL) diagnoses increased, whilst variant transthyretin amyloidosis (ATTRv) numbers remained relatively stable. Concerning disease severity, AL patients presented more frequently with severe cardiac involvement whereas an increasing number of ATTRwt patients presented with National Amyloid Centre stage I (22.0% in 2013-2014 to 45.9% in 2019-2020). Lastly, among patients diagnosed with ATTRv in 2019-2020, 83.9% had ATTR Val122Ile cardiac phenotype.
CONCLUSIONS
CONCLUSIONS
This study shows that increasing cardiologist awareness and referrals have increased CA diagnoses. With improved awareness and non-invasive diagnostic techniques, more patients with ATTRwt with milder disease and more ATTRv Val122Ile mutations are being referred and diagnosed. Although more AL cases are being recognised, patients are diagnosed with severe cardiac involvement.
Identifiants
pubmed: 37640624
pii: S1875-2136(23)00146-8
doi: 10.1016/j.acvd.2023.07.003
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
433-446Informations de copyright
Copyright © 2023 Elsevier Masson SAS. All rights reserved.