Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines
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, USACorrespondence: MD Benson 635 Barnhill Drive, A-128, Ind...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2020-08-01
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| Series: | Therapeutics and Clinical Risk Management |
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| Online Access: | https://www.dovepress.com/diagnosis-and-screening-of-patients-with-hereditary-transthyretin-amyl-peer-reviewed-article-TCRM |
| _version_ | 1818734070236971008 |
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| author | Benson MD Dasgupta NR Rao R |
| author_facet | Benson MD Dasgupta NR Rao R |
| author_sort | Benson MD |
| collection | DOAJ |
| description | 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, USACorrespondence: MD Benson 635 Barnhill Drive, A-128, Indianapolis, IN 46202, USATel +1 317-278-3428Fax +1 317-274-4304Email mdbenson@iupui.eduAbstract: 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 |
| first_indexed | 2024-12-17T23:59:31Z |
| format | Article |
| id | doaj.art-fdf7afd5612b4d01a9e8b7ee7889912d |
| institution | Directory Open Access Journal |
| issn | 1178-203X |
| language | English |
| last_indexed | 2024-12-17T23:59:31Z |
| publishDate | 2020-08-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Therapeutics and Clinical Risk Management |
| spelling | doaj.art-fdf7afd5612b4d01a9e8b7ee7889912d2022-12-21T21:27:59ZengDove Medical PressTherapeutics and Clinical Risk Management1178-203X2020-08-01Volume 1674975856256Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and GuidelinesBenson MDDasgupta NRRao RMD 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, USACorrespondence: MD Benson 635 Barnhill Drive, A-128, Indianapolis, IN 46202, USATel +1 317-278-3428Fax +1 317-274-4304Email mdbenson@iupui.eduAbstract: 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, cardiomyopathyhttps://www.dovepress.com/diagnosis-and-screening-of-patients-with-hereditary-transthyretin-amyl-peer-reviewed-article-TCRMtransthyretinamyloidosisneuropathycardiomyopathy |
| spellingShingle | Benson MD Dasgupta NR Rao R Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines Therapeutics and Clinical Risk Management transthyretin amyloidosis neuropathy cardiomyopathy |
| title | Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines |
| title_full | Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines |
| title_fullStr | Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines |
| title_full_unstemmed | Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines |
| title_short | Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines |
| title_sort | diagnosis and screening of patients with hereditary transthyretin amyloidosis hattr current strategies and guidelines |
| topic | transthyretin amyloidosis neuropathy cardiomyopathy |
| url | https://www.dovepress.com/diagnosis-and-screening-of-patients-with-hereditary-transthyretin-amyl-peer-reviewed-article-TCRM |
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