Guideline of Transthyretin-related Hereditary Amyloidosis for Clinicians

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2013 Feb 22

PMID 23425518

Citations 235

Authors

Yukio Ando

Teresa Coelho

John L Berk

Marcia Waddington Cruz

Bo-Goran Ericzon

Shu-Ichi Ikeda

W David Lewis

Laura Obici

Violaine Plante-Bordeneuve

Claudio Rapezzi

Gerard Said

Fabrizio Salvi

Affiliations

Soon will be listed here.

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.

Citing Articles

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.

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Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review.

Delgado D, Dabbous F, Shivappa N, Mazhar F, Wittbrodt E, Shridharmurthy D Orphanet J Rare Dis. 2025; 20(1):29.

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Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the Clinician.

Porcari G, Collyer J, Adang L, Rajan D Neurol Genet. 2025; 11(1):e200229.

PMID: 39810751 PMC: 11731373. DOI: 10.1212/NXG.0000000000200229.

Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations.

Castellar-Leones S, Ruiz-Ospina E, Diaz-Ruiz J, Correa-Arrieta C, Ruiz-Cortes X, Luzuriaga-Carpio D Orphanet J Rare Dis. 2024; 19(1):474.

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Anaesthesia for Caesarean Section in a Patient With Familial Amyloid Polyneuropathy Type I.

Oliveira R, Pereira A, Costa P, Ferreira A Cureus. 2024; 16(12):e75033.

PMID: 39634207 PMC: 11616461. DOI: 10.7759/cureus.75033.

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