Open Access<p>Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care</p>
Author(s) -
Marco Luigetti,
Ângela Romano,
Andrea Di Paolantonio,
Giulia Bisogni,
Mario Sabatelli
Publication year - 2020
Publication title -
therapeutics and clinical risk management
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.719
H-Index - 55
eISSN - 1178-203X
pISSN - 1176-6336
DOI - 10.2147/tcrm.s219979
Subject(s) - medicine , transthyretin , amyloidosis , polyneuropathy , pharmacology , bioinformatics , biology
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.