Section 5 of 5
Conclusions
Francesco Cappelli, Carlo Fumagalli, Marco Luigetti, Roberta Mussinelli, Simone Longhi, Pietro Guaraldi, Alberto Aimo, Alessia Argirò, Alessandro Barilaro, Elena Biagini, Giulia Biagioni, Marco Ceccanti, Alberto Cipriani, Cristina Chimenti, Laura De Michieli, Gianluca Di Bella, Michele Emdin, Francesca Graziani, Massimo Imazio, Giuseppe Limongelli, Carla Lofiego, Francesco Musca, Paolo Ossola, Mario Nuvolone, Stefano Perlini, Maurizio Pieroni, Aldostefano Porcari, Beatrice Musumeci, Giuseppe Palmiero, Federico Perfetto, Irene Ruotolo, Massimo Russo, Giacomo Tini, Giuseppe Vergaro, Fabio Vagnarelli, Federica Verrillo, Maria Ausilia Sciarrone, Alessandro Salvalaggio, Mattia Zampieri, Carlotta Mazzoni, Gianfranco Sinagra, Giovanni Palladini, Marco Merlo, and Laura Obici · about 1 minutes
Cascade genetic screening effectively identifies variant carriers with no or milder disease phenotype, favouring early intervention and thus determining a more favourable outcome. Our findings support a mutation-specific follow-up to timely detect early clinical conversion of pathogenic variant carriers. Future prospective international and multicentre studies with shared follow-up protocols are needed to validate these findings in other countries with different epidemiology and genetic background.