Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group
Year: 2025
Type: article
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.
Source: Frontiers in Neurology
Authors: Pietro Guaraldi, Isabella Allegri, Alessandra Ariatti, Tommaso Baldini, Andrea Barbieri, Federico Barocelli, Michela Bartolotti, Elena Biagini, Francesca Bianchi, Annamaria Borghi, Claudia Borghi, Giuseppe Boriani, Ilaria Cani, Samuela Carigi, Luca Codeluppi, Marco Currò Dossi, Francesca Dalpozzo, Roberto D’Angelo, Riccardo De Gennaro, Francesco Di Spigno, Elisa Gardini, Gianluca Lanati, Chiara Leuzzi, Francesca Marzo, Marco Masullo, Gaia Mazzanti, Elisa Merli, Agnese Milandri, Dennis Monari, Enrica Perugini, Alberto Ponziani, Emanuela Postiglione, Marta Rasia, Rita Rinaldi, Davide Scancarello, Kevin Serafini, Matteo Serenelli, Maurizio Sguazzotti, Ernesto Siena, Anna Maria Simone, Chiara Terracciano, Chiara Valenti, Giovanni Vitale, Maria Vitiello, Simone Longhi
Institutions: Istituto delle Scienze Neurologiche di Bologna, University of Parma, University of Modena and Reggio Emilia, Ospedale Infermi di Rimini, Azienda Ospedaliero-Universitaria di Modena, Ospedale di Parma, Ospedale “M. Bufalini” di Cesena, ERN GUARD-Heart, University of Bologna, Azienda Sanitaria Unità Locale di Reggio Emilia, Ospedale "Santa Maria delle Croci" di Ravenna, University of Ferrara, Arcispedale Sant'Anna, Guglielmo da Saliceto Hospital, Azienda Unità Sanitaria Locale Della Romagna, Ospedale G.B. Morgagni - L.Pierantoni, Ospedale di Castel San Giovanni, Ospedale Bellaria, Ospedale per gli Infermi, Ospedale Maggiore Carlo Alberto Pizzardi
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,801
Funder: Ministero della Salute
Awards: G3951370999, G5095041797
OpenAlex ID: W4413826613