Year: 2013
Type: review
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.
Institutions: Kumamoto University, Hospital de Santo António, Boston University, Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Karolinska University Hospital, Shinshu University, Lahey Hospital and Medical Center, Lahey Medical Center, Policlinico San Matteo Fondazione, Centre Hospitalier Universitaire Henri-Mondor, Hôpitaux Universitaires Henri-Mondor, University of Bologna, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Université Pierre-et-Marie-Curie, Istituto delle Scienze Neurologiche di Bologna
Language: English
Subfield: Internal Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,990
OpenAlex ID: W2115862827