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Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines

Authors Benson MD, Dasgupta NR, Rao R

Received 7 May 2020

Accepted for publication 12 July 2020

Published 14 August 2020 Volume 2020:16 Pages 749—758


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Professor Garry Walsh

MD Benson,1 NR Dasgupta,1,2 R Rao2

1Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA; 2Division of Cardiology, Indiana University School of Medicine, Indianapolis, IN 46040, USA

Correspondence: MD Benson 635 Barnhill Drive, A-128, Indianapolis, IN 46202, USA
Tel +1 317-278-3428
Fax +1 317-274-4304

Abstract: The outlook for transthyretin amyloidosis (ATTR) is changing with the availability of new and emerging treatments. ATTR now appears to be more common than previously thought and is no longer viewed as an obscure diagnosis with a grim prognosis. Now more than ever, there is growing emphasis on the need for early diagnosis because the treatments appear to be most effective if started in earlier stages of the disease. Diagnosing ATTR is a challenge as it may initially present with nonspecific symptoms and it is often thought of as a diagnosis of exclusion. Increased awareness is imperative as new treatments offer hope and have the potential to change the disease trajectory. ATTR commonly presents with neurological and cardiac features. Transthyretin (TTR) is a protein produced in the liver which misfolds either due to genetic mutations or due to aging and results in deposition of amyloid fibrils in organs and tissues. Apart from the traditional imaging modalities, newer techniques including echocardiographic strain imaging, magnetic resonance imaging (MRI), and nuclear scintigraphy, as well as the increased availability of genetic testing are aiding in making a timely diagnosis. In this review, we present the current understanding of the ATTR disease process, diagnostic and surveillance approaches, newer treatment modalities, and the future directions.

Keywords: transthyretin, amyloidosis, neuropathy, cardiomyopathy

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