Abstract
Introduction
ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services.
Methods
Fifteen Italian referral centres for amyloidosis spread all over the country have contributed to the Registry.
Results
Four-hundred-forty-seven subjects were enrolled, 187 asymptomatic carriers and 260 affected patients. Thirty-one different mutations were recorded. The seven most represented genetic variants were significantly different in terms of age at onset, clinical features and geographical distribution. National prevalence is 4.33/million with higher values in Southern Italy. Overall symptoms of polyneuropathy were present at disease onset in about half of the patients, symptoms of cardiomyopathy in a quarter of patients, the rest referring carpal tunnel syndrome, dysautonomia or lumbar spinal stenosis. 52.6% of patients were in FAP stage 1, 20.4% in stage 2 and 13.5% in stage 3, while 13.5% patients had no neuropathy, presenting only cardiological symptoms.
Conclusions
We presented an epidemiological study based on collaboration among referral centres for ATTRv amyloidosis spread in all the Italian territory, using web-based Registry. It provided a detailed map of the regional distribution of the disease. The increased awareness of the disease among general practitioners and medical specialists has contributed to reduce the diagnostic delay and the rate of misdiagnosis. The Registry will allow to collect also future information about clinical and instrumental follow-up.
Acknowledgements
The authors express our gratitude to all the patients. The authors also thank ‘Associazione del Registro dei pazienti con malattie neuromuscolari’ (Neuromuscular Patients Registry Association) for valuable support in managing the Italian ATTRv Registry.
Disclosure statement
Massimo Russo acknowledges speaker fee and consulting honoraria from Pfizer. Travel grant from Alnylam and Akcea.
Laura Obici acknowledges speaker fee and consulting honoraria from Alnylam, Akcea and Pfizer.
Francesco Cappelli, honoraria and speaking from Akcea and Pfizer, unconditioned research grant from Pfizer.
Marco Luigetti received financial grants (honoraria and speaking) from Akcea, Alnylam and Pfizer, and travel grants from Akcea, Alnylam, Pfizer, Kedrion and Grifols.
Luca Guglielmo Pradotto received financial grants (honoraria and speaking) from Akcea and Alnylam, and travel grants from Akcea, Alnylam, and Pfizer.
Fiore Manganelli (honoraria and speaking) from Akcea and Alnylam.
Chiara Briani reports speaker and consulting honoraria from Akcea, Alnylam and Pfizer.
Giovanni Antonini, travel grants from Pfizer, Alnylam, Akcea.
Lucio Santoro received honoraria and speaking from Alnylam.
Marina Grandis received honoraria for speaking and grants to attend scientific meetings from Pfizer.
Gian Maria Fabrizi reports consulting honoraria from Akcea and Alnylam, and travel grants from Alnylam.
Davide Pareyson acknowledges donations from Pfizer, Financial support from Pfizer, Alnylam for participation in National and International Meetings; Participation in Advisory Board of Alnylam and Akcea; Speaker honorarium from Alnylam.
Mario Sabatelli received financial grants (honoraria and speaking) from Akcea.
Federico Perfetto received financial grants (honoraria and speaking) and travel grants from Alnylam and Pfizer.
Claudio Rapezzi received research grants from Pfizer. Honoraria and speaking fees from Akcea, Alnylam and Pfizer.
Anna Mazzeo acknowledges speaker fee and consulting honoraria from Alnylam, Akcea and Pfizer.
Giuseppe Vita acknowledges speaker fee and consulting honoraria from Alnylam, Akcea and Pfizer.
The remaining authors have no conflict of interest to declare.