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: Yukio Ando, Teresa Coelho, John L Berk, Márcia Waddington Cruz, Bo-Göran Ericzon, Shu-ichi Ikeda, W David Lewis, Laura Obici, Violaine Planté-Bordeneuve, Claudio Rapezzi, Gerard Said, Fabrizio Salvi
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 8 Pg. 31 (Feb 20 2013) ISSN: 1750-1172 [Electronic] England
• PMID: 23425518 (Publication Type: Journal Article, Review)

Chemical References

• Prealbumin

Topics

• Age of Onset
• Amyloid Neuropathies, Familial (epidemiology, genetics, metabolism, therapy)
• Humans
• Practice Guidelines as Topic
• Practice Patterns, Physicians'
• Prealbumin (genetics, metabolism)
• Prevalence