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Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients?

Daniele SeveriFrancesco ArutaAniello IovinoEmanuele SpinaMaria NolanoFiore ManganelliStefano Tozza
Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)
Hereditary TTR amyloidosis (ATTRv) is a progressive e disabling disease, leading to a gradual loss of ambulation and death. In the last decade, new treatments have drastically revolutionized natural history of disease, and they are more efficacious if precociously administered. However, diagnostic delay still represents an important challenge to resolve. We reported a case of two asymptomatic brothers that received a very precocious diagnosis of ATTRv thanks to the diagnosis of carpal tunnel syndrome. We proposed screening of the well-defined carpal tunnel syndrome to detect patients with ATTRv in a pre-symptomatic stage.
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