Deep Phenotyping of F64L Mutation in a Multicentric Cohort of Patisiran-Treated Hereditary Transthyretin Amyloidosis Patients (Patisiranitaly).
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Ceccanti Marco, Guaraldi Pietro, Romano Angela, Antonini Giovanni, Barilaro Alessandro, Briani Chiara, Burattini Marco, Gianoli Micol, Carlini Giulia, Cianci Vittoria, Dossi Marco Currò, Di Lisi Daniela, Di Muzio Antonio, Ratti Adele, Filosto Massimiliano, Gasverde Sabrina, Gemelli Chiara, Gentile Luca, Goglia Mariangela, Leonardi Luca, Longhi Simone, Lotti Antonio, Manganelli Fiore, Mazzeo Anna, Augello Sofia Maria, Milella Giammarco, Novo Giuseppina, Pareyson Davide, Fenu Silvia, Palumbo Giovanni, Petrelli Cristina, Poli Loris, Pradotto Luca Guglielmo, Russo Massimo, Salvalaggio Alessandro, Sciarrone Maria Ausilia, Sellitti Luigi, Tagliapietra Matteo, Tozza Stefano, Castiglia Mariagiovanna, Turri Mara, Verriello Lorenzo, Chimenti Cristina, Vitali Francesca, Brighina Filippo, Rini Nicasio, Inghilleri Maurizio, D'Angelo Roberto, Abelardo Domenico, Cambieri Chiara, Libonati Laura, Moret Federica, Luigetti Marco, Di Stefano Vincenzo
Аннотация
METHODS: Data from 181 ATTRv patients in the multicenter Patisiranitaly database treated with Patisiran since 2020 were analyzed. Neurologic impairment scores, Norfolk QoL-DN, and cardiac parameters were compared between F64L (n = 56), V30M (n = 37), and non-F64L (n = 125) patients at baseline and during follow-up. Cluster analysis was applied to identify patient subgroups based on these variables.
RESULTS: F64L represented 30.9% of the cohort. Compared to non-F64L patients, F64L patients had a higher prevalence of neurologic onset and neurologic phenotype, a thinner interventricular septum, and lower NT-proBNP levels. Cluster analysis segregated patients into two distinct groups, predominantly reflecting F64L vs. non-F64L status and corresponding neurologic severity. F64L patients showed milder cardiac involvement compared to V30M patients. Longitudinal repeated-measures ANOVA showed stable clinical and instrumental measures.
CONCLUSIONS: F64L is characterized by predominant neurologic involvement and milder cardiac involvement in this Patisiran-treated cohort. Mutation-specific diagnostic and follow-up strategies are essential to capture its natural history and treatment response.