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Open Access 08-11-2023 | Amyloidosis | Original Article

Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset

Authors: Angela Romano, Valeria Guglielmino, Giulia Bisogni, Andrea Di Paolantonio, Andrea Truini, Angelo Maria Minnella, Maria Ausilia Sciarrone, Francesca Vitali, Martina Maceroni, Eleonora Galosi, Mario Sabatelli, Marco Luigetti

Published in: Neurological Sciences | Issue 4/2024

Abstract

Background

Hereditary transthyretin (ATTRv) amyloidosis is a heterogeneous, progressive, multisystemic disease with a life-threatening course if left untreated. Given the current availability of effective therapies, close follow-up of presymptomatic TTR mutation carriers is essential to recognize disease onset at the earliest sign. In addition to routine techniques, in recent years several novel tools have been proposed, although a consensus on their use has not been reached yet. In this paper, we aimed to evaluate possible markers of neuropathic disease onset intended to discriminate clinically asymptomatic carriers from early symptomatic patients, thus allowing timely treatment initiation.

Methods

Thirty-eight presymptomatic carriers were enrolled. Clinical and electrophysiological findings at first evaluation and follow-up were collected. All carriers underwent an extensive clinical and instrumental evaluation according to the standard clinical practice. One or more non-routine investigations, whose use in this field is not yet validated (henceforth “unconventional”), were additionally assessed in a subgroup of individuals.

Results

Based on the exclusive use of routine investigations, it was possible to define disease onset in 4/38 carriers during the follow-up. Employing additionally one or more “unconventional” tests, abnormal findings, indicative of a possible “conversion” to symptomatic disease, were detected in further 12 cases. More than half of our study cohort showed findings suggestive of small nerve fiber (SF) involvement at either invasive or non-invasive tests.

Conclusions

A close, multidisciplinary monitoring of presymptomatic TTR mutation carriers is fundamental, and diagnostic workup should include both routine and “unconventional” tests. Assessment of SF involvement is important also in non-endemic countries.

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Title: Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset
Authors: Angela Romano
Valeria Guglielmino
Giulia Bisogni
Andrea Di Paolantonio
Andrea Truini
Angelo Maria Minnella
Maria Ausilia Sciarrone
Francesca Vitali
Martina Maceroni
Eleonora Galosi
Mario Sabatelli
Marco Luigetti
Publication date: 08-11-2023
Publisher: Springer International Publishing
Keywords: Amyloidosis
Biomarkers
Published in: Neurological Sciences / Issue 4/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-07177-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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