Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.

Autor: Carvalho E; Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto, Portugal., Dias A; Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto, Portugal., Coelho T; Unidade Corino de Andrade (UCA), Centro Hospitalar Universitário de Santo António (CHUdSA), Porto, Portugal., Sousa A; Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto, Portugal., Alves-Ferreira M; Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto, Portugal.; Center for Preditive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal., Santos M; Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto, Portugal.; Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal., Lemos C; Instituto de Investigação e Inovação Em Saúde (i3S), University of Porto, Porto, Portugal. cclemos@icbas.up.pt.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), University of Porto, Porto, Portugal. cclemos@icbas.up.pt.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2024 Sep; Vol. 271 (9), pp. 5746-5761. Date of Electronic Publication: 2024 Jun 22.
DOI: 10.1007/s00415-024-12509-8
Abstrakt: Hereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively debilitating disease characterized by the deposition of transthyretin (TTR) amyloid fibrils in various organs and tissues, most commonly in the heart and peripheral nerves. This pathological deposition can lead to significant organ dysfunction and, ultimately, organ failure. ATTRv amyloidosis exhibits a broad range of clinical presentations, from purely neurological symptoms to purely cardiac manifestations, as well as mixed phenotypes which result from both neurological and cardiac implications. This wide phenotypical spectrum realistically challenges disease diagnosis and prognosis, especially in individuals without or with an unknown family history. Multiple factors are thought to contribute to this variability, including genetic, epigenetic, and even environmental influences. Understanding these factors is crucial, as they can significantly affect disease expression and progression. This review aims to summarize each of these contributing factors, to help elucidate the current knowledge on the phenotypical variability of ATTRv amyloidosis.
(© 2024. The Author(s).)
Databáze: MEDLINE
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