Title :

Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

Author(s) :

Fargeot, Guillaume [Auteur]
Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
Echaniz-Laguna, A. [Auteur]
Labeyrie, C. [Auteur]
Svahn, J. [Auteur]
Camdessanché, J. P. [Auteur]
Cintas, P. [Auteur]
Chanson, J. B. [Auteur]
Esselin, F. [Auteur]
Piedvache, C. [Auteur]
Verstuyft, C. [Auteur]
Genestet, S. [Auteur]
Lagrange, E. [Auteur]
Magy, L. [Auteur]
Péréon, Y. [Auteur]
Sacconi, S. [Auteur]
Signate, A. [Auteur]
Nadaj-Pakleza, A. [Auteur]
Taithe, F. [Auteur]
Viala, K. [Auteur]
Tard, Celine [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Poinsignon, V. [Auteur]
Cauquil, C. [Auteur]
Attarian, S. [Auteur]
Adams, D. [Auteur]

Journal title :

Amyloid: The Journal of Protein Folding Disorders

Volume number :

31

Pages :

1-8

Publisher :

Taylor & Francis Online

Publication date :

2023-10-22

ISSN :

1744-2818

Keyword(s) :

Amyloidosis
epidemiology
neuropathy
transthyretin
TTR gene

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Background Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv ...
Show more >Background Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available. Methods In this 5 year-long (2017–2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy. Results 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants (n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p = .007), significant weight loss (33 vs 11%, p = .024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p = .03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives. Conclusion In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Submission date :

2024-01-15T22:14:57Z
2024-09-25T09:58:00Z