ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country.

Marco Luigetti,Valeria Guglielmino,Antonio Di Muzio,Antonio Petrucci,Elena Maria Pennisi,Carlo Casali,Mario Sabatelli,Giovanni Antonini,Mariangela Goglia,Vincenzo Di Lazzaro,Emanuela Proietti,Marco Ceccanti,Marianna Rispoli,Roberto Massa,Maurizio Inghilleri,Maria Grazia Chiappini,Luca Leonardi,Marco Di Girolamo,Laura De Giglio

doi:10.3390/genes12060829

Abstract

Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv amyloidosis Italian Registry. However, values of prevalence were extremely heterogeneous, considering different regions. To properly establish the prevalence of the disease in the Lazio region, a survey was sent to university regional hospitals and to main regional hospitals, in order to collect all affected patients regularly followed. We identified 100 ATTRv patients and, considering a Lazio population of 5.8/million, we estimated a ATTRv prevalence of 17.2/million. The ATTRv amyloidosis Italian Registry reported a prevalence of 8.0/million in Lazio, while our survey showed a value of double this. Our survey documented a high-prevalence for a non-endemic country. The increased awareness of the disease among general practitioners and medical specialists is a fundamental step to reduce the diagnostic delay and start an effective treatment of this disease.

Highlights

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe, heterogeneous multisystem condition with prevalent peripheral nervous system impairment, due to mutations in the transthyretin (TTR) gene [1,2]
Patients from endemic areas, such as Portugal, have an early-onset (50 years) progressive axonal polyneuropathy [1,3]
To properly establish the prevalence of ATTRv in the Lazio region a survey was sent to University regional hospitals and to several regional hospitals

Summary

Introduction

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe, heterogeneous multisystem condition with prevalent peripheral nervous system impairment, due to mutations in the transthyretin (TTR) gene [1,2]. The condition, presenting as an adult-onset, autosomal-dominant disease with variable penetrance, is characterized by extracellular deposition of amyloid fibrils in different organs [1,2]. The heart, kidney, gastro-intestinal system, and eyes may be involved, leading to a lifethreatening, multisystem disease with huge clinical variability and course, and death within 10 years on average [1,2]. The prevalence in Italy, a non-endemic region, has been established by the ATTRv amyloidosis Italian Registry [4]. Prevalence varies significantly in different regions [4]

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Results

Conclusion