Review ArticleHereditary Transthyretin Amyloidosis: Clinical Presentation and Management UpdatesSchwartzlow, Coreen MD; Kazamel, Mohamed MDAuthor Information Department of Neurology, The University of Alabama at Birmingham, Birmingham, AL. Reprints: Mohamed Kazamel, MD, Department of Neurology, The University of Alabama at Birmingham, 1720 7th Avenue South, SC271, Birmingham, AL 35294-0017 (e-mail: firstname.lastname@example.org). M. Kazamel received consulting fees from Akcea Therapeutics. The remaining author reports no conflict of interest. Journal of Clinical Neuromuscular Disease: March 2020 - Volume 21 - Issue 3 - p 144-156 doi: 10.1097/CND.0000000000000270 Buy Metrics Abstract Hereditary transthyretin amyloidosis, once a rare progressive neuropathy and/or cardiomyopathy, is now recognized with increasing worldwide frequency, various phenotypes, and over 130 gene mutations identified to date. This inherited disorder develops as a result of mutated transthyretin amyloid aggregation and systematic deposition throughout the body. With increasing knowledge about the pathophysiology of this disease, new disease-modifying therapies are being developed. In addition to slowing progression, these new agents were found to improve quality of life and reduce the severity of neuropathic symptoms. Two new gene-modifying therapies recently received Food and Drug Administration approval following the positive results from phase III trials. These include an antisense oligonucleotide, inotersen, and small interfering RNA, patisiran, which were reported to reduce the production of transthyretin and had promising safety profiles. Additional novel therapies are being explored with hopes to prolong survival. Therefore, early diagnosis of this treatable disorder has become increasingly important in clinical practice. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.