title: Guideline of transthyretin-related hereditary amyloidosis for clinicians.
abstract: Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis--and, specifically, familial amyloidotic polyneuropathy--so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacotherapies that have shown promise in clinical trials.
authors: Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan. andoy709@kumamoto-u.ac.jp
authors: Yukio
authors: Y
authors: Ando
authors: Teresa
authors: T
authors: Coelho
authors: John L
authors: JL
authors: Berk
authors: Márcia Waddington
authors: MW
authors: Cruz
authors: Bo-Göran
authors: BG
authors: Ericzon
authors: Shu-ichi
authors: S
authors: Ikeda
authors: W David
authors: WD
authors: Lewis
authors: Laura
authors: L
authors: Obici
authors: Violaine
authors: V
authors: Planté-Bordeneuve
authors: Claudio
authors: C
authors: Rapezzi
authors: Gerard
authors: G
authors: Said
authors: Fabrizio
authors: F
authors: Salvi
mesh_terms: D017668:Age of Onset; D028227:Amyloid Neuropathies, Familial / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D006801:Humans; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'; D011228:Prealbumin / Q000235:genetics / Q000378:metabolism*; D015995:Prevalence
chemical_list: D011228:Prealbumin