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Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner

BACKGROUND: Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous pres...

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Autores principales: Gertz, Morie, Adams, David, Ando, Yukio, Beirão, João Melo, Bokhari, Sabahat, Coelho, Teresa, Comenzo, Raymond L., Damy, Thibaud, Dorbala, Sharmila, Drachman, Brian M., Fontana, Marianna, Gillmore, Julian D., Grogan, Martha, Hawkins, Philip N., Lousada, Isabelle, Kristen, Arnt V., Ruberg, Frederick L., Suhr, Ole B., Maurer, Mathew S., Nativi-Nicolau, Jose, Quarta, Candida Cristina, Rapezzi, Claudio, Witteles, Ronald, Merlini, Giampaolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513485/
https://www.ncbi.nlm.nih.gov/pubmed/32967612
http://dx.doi.org/10.1186/s12875-020-01252-4
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author Gertz, Morie
Adams, David
Ando, Yukio
Beirão, João Melo
Bokhari, Sabahat
Coelho, Teresa
Comenzo, Raymond L.
Damy, Thibaud
Dorbala, Sharmila
Drachman, Brian M.
Fontana, Marianna
Gillmore, Julian D.
Grogan, Martha
Hawkins, Philip N.
Lousada, Isabelle
Kristen, Arnt V.
Ruberg, Frederick L.
Suhr, Ole B.
Maurer, Mathew S.
Nativi-Nicolau, Jose
Quarta, Candida Cristina
Rapezzi, Claudio
Witteles, Ronald
Merlini, Giampaolo
author_facet Gertz, Morie
Adams, David
Ando, Yukio
Beirão, João Melo
Bokhari, Sabahat
Coelho, Teresa
Comenzo, Raymond L.
Damy, Thibaud
Dorbala, Sharmila
Drachman, Brian M.
Fontana, Marianna
Gillmore, Julian D.
Grogan, Martha
Hawkins, Philip N.
Lousada, Isabelle
Kristen, Arnt V.
Ruberg, Frederick L.
Suhr, Ole B.
Maurer, Mathew S.
Nativi-Nicolau, Jose
Quarta, Candida Cristina
Rapezzi, Claudio
Witteles, Ronald
Merlini, Giampaolo
author_sort Gertz, Morie
collection PubMed
description BACKGROUND: Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous presentation. Although ATTR amyloidosis was previously considered untreatable, disease-modifying therapies for the treatment of this disease have recently become available. This article aims to raise awareness of the initial symptoms of ATTR amyloidosis among general practitioners to facilitate identification of a patient with suspicious signs and symptoms. METHODS: These consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central. RESULTS: The cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy. CONCLUSIONS: A diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center.
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spelling pubmed-75134852020-09-25 Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner Gertz, Morie Adams, David Ando, Yukio Beirão, João Melo Bokhari, Sabahat Coelho, Teresa Comenzo, Raymond L. Damy, Thibaud Dorbala, Sharmila Drachman, Brian M. Fontana, Marianna Gillmore, Julian D. Grogan, Martha Hawkins, Philip N. Lousada, Isabelle Kristen, Arnt V. Ruberg, Frederick L. Suhr, Ole B. Maurer, Mathew S. Nativi-Nicolau, Jose Quarta, Candida Cristina Rapezzi, Claudio Witteles, Ronald Merlini, Giampaolo BMC Fam Pract Guidelines BACKGROUND: Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous presentation. Although ATTR amyloidosis was previously considered untreatable, disease-modifying therapies for the treatment of this disease have recently become available. This article aims to raise awareness of the initial symptoms of ATTR amyloidosis among general practitioners to facilitate identification of a patient with suspicious signs and symptoms. METHODS: These consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central. RESULTS: The cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy. CONCLUSIONS: A diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center. BioMed Central 2020-09-23 /pmc/articles/PMC7513485/ /pubmed/32967612 http://dx.doi.org/10.1186/s12875-020-01252-4 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Guidelines
Gertz, Morie
Adams, David
Ando, Yukio
Beirão, João Melo
Bokhari, Sabahat
Coelho, Teresa
Comenzo, Raymond L.
Damy, Thibaud
Dorbala, Sharmila
Drachman, Brian M.
Fontana, Marianna
Gillmore, Julian D.
Grogan, Martha
Hawkins, Philip N.
Lousada, Isabelle
Kristen, Arnt V.
Ruberg, Frederick L.
Suhr, Ole B.
Maurer, Mathew S.
Nativi-Nicolau, Jose
Quarta, Candida Cristina
Rapezzi, Claudio
Witteles, Ronald
Merlini, Giampaolo
Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
title Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
title_full Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
title_fullStr Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
title_full_unstemmed Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
title_short Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
title_sort avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
topic Guidelines
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513485/
https://www.ncbi.nlm.nih.gov/pubmed/32967612
http://dx.doi.org/10.1186/s12875-020-01252-4
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