Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group

Transthyretin amyloidosis (ATTR) is a rare disease caused by the extracellular accumulation of misfolded transthyretin (TTR) amyloid fibrils. ATTR can be either hereditary (ATTRv) or acquired (wtATTR). ATTRv is caused by a mutation in the transthyretin gene (TTR) with an autosomal dominant pattern of inheritance. In ATTRv amyloidosis, some patients primarily exhibit symptoms of polyneuropathy others mainly or exclusively present with symptoms of cardiomyopathy. However, many patients present with a multisystemic involvement that includes sensory, motor, autonomic, and cardiac symptoms. Early diagnosis and detection of disease progression are emerging as a crucial need for ATTR amyloidosis in order to significantly impact survival, patients' functions and quality of life. Currently, parameters to be monitored in ATTR patients in the real life might refer to some publicly available recommendations regarding the monitoring and assessment of disease progression in the real-world setting of patients with ATTRv. Nonetheless, a standardized disease monitoring protocol has not been established in Italy, posing a significant unmet need for a prompt and equal access to care. Therefore, in the Emilia-Romagna Region the "ATTR Working Group" has sought to tailor the recommendations to the Regional "real clinical setting" in order to optimize and standardize a monitoring protocol aimed at identifying disease progression. Patients' and carriers' access to uniform monitoring routes across the entire Region ensures optimal disease management and economic sustainability.

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Journal
Frontiers in Neurology
Published
2025-08-29
DOI
https://doi.org/10.3389/fneur.2025.1666318
Citations
1
Primary Topic
Amyloidosis: Diagnosis, Treatment, Outcomes
Type
article
Field-Weighted Citation Impact
0.81

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article

Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group

Riccardo De Gennaro, Matteo Serenelli, Marta Rasia, Simone Longhi et al.
1 citations
Frontiers in Neurology
Amyloidosis: Diagnosis, Treatment, Outcomes
0.81
article

Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group

Riccardo De Gennaro, Matteo Serenelli, Marta Rasia, Simone Longhi, Roberto D’Angelo, Francesca Marzo, Luca Codeluppi, Marco Currò Dossi, Enrica Perugini, Agnese Milandri, Ilaria Cani, Francesco Di Spigno, Pietro Guaraldi, Emanuela Postiglione, Ernesto Siena, Isabella Allegri, Alberto Ponziani, Maria Vitiello, Chiara Leuzzi, Tommaso Baldini, Chiara Valenti, Federico Barocelli, Samuela Carigi, Rita Rinaldi, Maurizio Sguazzotti, Chiara Terracciano, Elisa Gardini, Elisa Merli, Anna Maria Simone, Elena Biagini, Michela Bartolotti, Gianluca Lanati, Annamaria Borghi, Andréa Barbieri, Francesca Bianchi, Kevin Serafini, Giovanni Vitale, Gaia Mazzanti, Marco Masullo, Alessandra Ariatti, C. Borghi, Giuseppe Boriani, Francesca Dalpozzo, Dennis Monari, Davide Scancarello
article en
1 citations

Abstract

Transthyretin amyloidosis (ATTR) is a rare disease caused by the extracellular accumulation of misfolded transthyretin (TTR) amyloid fibrils. ATTR can be either hereditary (ATTRv) or acquired (wtATTR). ATTRv is caused by a mutation in the transthyretin gene (TTR) with an autosomal dominant pattern of inheritance. In ATTRv amyloidosis, some patients primarily exhibit symptoms of polyneuropathy others mainly or exclusively present with symptoms of cardiomyopathy. However, many patients present with a multisystemic involvement that includes sensory, motor, autonomic, and cardiac symptoms. Early diagnosis and detection of disease progression are emerging as a crucial need for ATTR amyloidosis in order to significantly impact survival, patients' functions and quality of life. Currently, parameters to be monitored in ATTR patients in the real life might refer to some publicly available recommendations regarding the monitoring and assessment of disease progression in the real-world setting of patients with ATTRv. Nonetheless, a standardized disease monitoring protocol has not been established in Italy, posing a significant unmet need for a prompt and equal access to care. Therefore, in the Emilia-Romagna Region the "ATTR Working Group" has sought to tailor the recommendations to the Regional "real clinical setting" in order to optimize and standardize a monitoring protocol aimed at identifying disease progression. Patients' and carriers' access to uniform monitoring routes across the entire Region ensures optimal disease management and economic sustainability.

Frontiers in NeurologyVol. 16
University of Modena and Reggio Emilia (IT), University of Parma (IT), Azienda Ospedaliera San Giovanni Addolorata (IT), Santa Maria Nuova Hospital (IT), Azienda Sanitaria Unità Locale di Reggio Emilia (IT), Ospedale regionale di Lugano (CH), Ospedale "Santa Maria delle Croci" di Ravenna (IT), Istituto Ramazzini (IT), Nuovo Ospedale San Giovanni di Dio (IT), Azienda Unità Sanitaria Locale Della Romagna (IT), Azienda Ospedaliero-Universitaria di Modena (IT), Ospedale Humanitas Gradenigo (IT), Ospedale “M. Bufalini” di Cesena (IT), Ospedale Santa Maria (IT), Azienda USL di Bologna (IT), Ospedale per gli Infermi (IT), Istituto delle Scienze Neurologiche di Bologna (IT), Ospedale G.B. Morgagni - L.Pierantoni (IT), Arcispedale Sant'Anna (IT), Ospedale Infermi di Rimini (IT), Guglielmo da Saliceto Hospital (IT), ERN GUARD-Heart (NL), Istituti di Ricovero e Cura a Carattere Scientifico (IT), University of Bologna (IT)
Ministero della Salute
Openalex Percentile: Top 24%
Amyloidosis: Diagnosis, Treatment, Outcomes
0.81
DOIOpen Access PDFOpenAlex
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