Avoiding Misdiagnosis: Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Amyloidosis for the General Practitioner | oneAMYLOIDOSISvoice
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Avoiding Misdiagnosis: Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Amyloidosis for the General Practitioner

key information

source: BMC Family Practice

year: 2020

authors: Morie Gertz, David Adams, Yukio Ando, João Melo Beirão, Sabahat Bokhari, Teresa Coelho, Raymond L Comenzo, Thibaud Damy, Sharmila Dorbala, Brian M Drachman, Marianna Fontana, Julian D Gillmore, Martha Grogan, Philip N Hawkins, Isabelle Lousada, Arnt V Kristen, Frederick L Ruberg, Ole B Suhr, Mathew S Maurer, Jose Nativi-Nicolau, Candida Cristina Quarta, Claudio Rapezzi, Ronald Witteles, Giampaolo Merlini

summary/abstract:

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.
 
organization: Mayo Clinic, USA; Université Paris-Sud, Le Kremlin Bicêtre, France; Kumamoto University, Japan; Hospital de Santo António, Portugal; Columbia University Medical Center, USA; Centro Hospitalar do Porto, Portugal; Tufts Medical Center, Boston, USA; APHP CHU Henri Mondor and Université Paris Est Créteil, France; Brigham and Women's Hospital, Boston, USA; University of Pennsylvania Perelman School of Medicine, USA; University College London, UK; Amyloidosis Research Consortium, USA; University of Heidelberg, Germany; Boston Medical Center, USA; Umeå University, Sweden; University of Utah Health, USA; University of Bologna, Italy; Stanford University School of Medicine, USA; IRCCS Policlinico San Matteo, Italy

DOI: 10.1186/s12875-020-01252-4

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