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.
Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients? / Severi, D.; Aruta, F.; Iovino, A.; Spina, E.; Nolano, M.; Manganelli, F.; Tozza, S.. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - 43:5(2022), pp. 3435-3438-3438. [10.1007/s10072-021-05851-6]
Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients?
Severi D.;Aruta F.;Iovino A.;Spina E.;Nolano M.;Manganelli F.;Tozza S.
2022
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.