Diagnosis and treatment of hereditary transthyretin amyloidosis (Hattr) polyneuropathy: Current perspectives on improving patient care

Mario Sabatelli, Marco Luigetti, Giulia Bisogni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

13 Citazioni (Scopus)

Abstract

Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. hATTR amyloidosis represents a diagnostic challenge for neurologists considering the great variability in clinical presentation and multiorgan involvement. Generally, patients present with polyneuropathy, but clinicians should consider the frequent cardiac, ocular and renal impairment. Especially a hypertrophic cardiomyopathy, even if usually latent, is identifiable in at least 50% of the patients. Therapeutically, current available options act at different stages of TTR production, including synthesis inhibition (liver transplantation and/or gene-silencing drugs) or tetramer TTR stabilization (TTR stabilizers), increasing survival at different disease stages.
Lingua originaleEnglish
pagine (da-a)109-123
Numero di pagine15
RivistaTherapeutics and Clinical Risk Management
Volume16
DOI
Stato di pubblicazionePubblicato - 2020

Keywords

  • Amyloid
  • Clinical care
  • Polyneuropathy
  • Therapy
  • Transthyretin

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