{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:47:56Z","timestamp":1761745676998},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,25]],"date-time":"2022-06-25T00:00:00Z","timestamp":1656115200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,25]],"date-time":"2022-06-25T00:00:00Z","timestamp":1656115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to peripheral neuropathy often with autonomic features, cardiomyopathy, or a mixed phenotype. Multiple other organ systems can be involved with ophthalmologic, renal, hematologic, gastrointestinal, and\/or genitourinary symptoms and signs. This often results in assessments by multiple specialists and significant delays before the diagnosis is recognized. With the recent advent of potentially lifesaving therapies, early diagnosis has become even more important. Our case highlights the protean aspects of this disease as well as the difficulty of making this diagnosis, especially in the absence of a clear family history.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report the case of a 64-year-old man of East-Asian descent who presented with diarrhea, mild anemia, and symptoms of peripheral neuropathy. Numerous investigations and specialist evaluations did not identify a cause. Progression of neurologic symptoms and the development of new hematologic abnormalities ultimately led to consideration of hereditary transthyretin amyloidosis. The diagnosis was confirmed after re-examining previously acquired gastrointestinal biopsies and pursuing genetic testing, which confirmed a pathogenic mutation in the transthyretin gene. He was subsequently started on a novel gene-silencing therapy. On clinical follow-up 8\u00a0months after initiation of therapy, the patient described stabilization of previously progressive numbness, weakness, and weight loss with an unchanged neurologic examination and stable repeat electrophysiologic testing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Hereditary transthyretin amyloidosis is a challenging disease to recognize in early stages owing to its multisystem and nonspecific manifestations. Recent approval of novel therapies highlights the importance of early diagnosis before irreversible organ damage occurs.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-022-03437-0","type":"journal-article","created":{"date-parts":[[2022,6,24]],"date-time":"2022-06-24T23:02:34Z","timestamp":1656111754000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Hereditary transthyretin amyloidosis: a\u00a0case report"],"prefix":"10.1186","volume":"16","author":[{"given":"Angela","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nowell M.","family":"Fine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Bril","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diego","family":"Delgado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,6,25]]},"reference":[{"issue":"4","key":"3437_CR1","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1080\/13506129.2018.1549825","volume":"25","author":"MD Benson","year":"2018","unstructured":"Benson MD, Buxbaum JN, Eisenberg DS, et\u00a0al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2018;25(4):215\u20139. https:\/\/doi.org\/10.1080\/13506129.2018.1549825.","journal-title":"Amyloid"},{"issue":"2","key":"3437_CR2","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1177\/1756285612470192","volume":"6","author":"D Adams","year":"2013","unstructured":"Adams D. Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Disord. 2013;6(2):129\u201339. https:\/\/doi.org\/10.1177\/1756285612470192.","journal-title":"Ther Adv Neurol Disord"},{"issue":"3","key":"3437_CR3","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/j.cjca.2019.12.034","volume":"36","author":"NM Fine","year":"2020","unstructured":"Fine NM, Davis MK, Anderson K, et\u00a0al. Canadian Cardiovascular Society\/Canadian Heart Failure Society Joint Position Statement on the evaluation and management of patients with cardiac amyloidosis. Can J Cardiol. 2020;36(3):322\u201334. https:\/\/doi.org\/10.1016\/j.cjca.2019.12.034.","journal-title":"Can J Cardiol"},{"issue":"3","key":"3437_CR4","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1080\/13506129.2018.1503593","volume":"25","author":"M Waddington-Cruz","year":"2018","unstructured":"Waddington-Cruz M, Ackermann E, Polydefkis M, et\u00a0al. Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial. Amyloid. 2018;25(3):180\u20138. https:\/\/doi.org\/10.1080\/13506129.2018.1503593.","journal-title":"Amyloid"},{"key":"3437_CR5","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2020.271","author":"A Russell","year":"2020","unstructured":"Russell A, Hahn C, Chhibber S, Korngut L, Fine NM. Utility of neuropathy screening for wild-type transthyretin amyloidosis patients. Can J Neurol Sci. 2020. https:\/\/doi.org\/10.1017\/cjn.2020.271.","journal-title":"Can J Neurol Sci"},{"issue":"7","key":"3437_CR6","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/s41582-019-0210-4","volume":"15","author":"D Adams","year":"2019","unstructured":"Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387\u2013404. https:\/\/doi.org\/10.1038\/s41582-019-0210-4.","journal-title":"Nat Rev Neurol"},{"key":"3437_CR7","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2021.34","author":"M Alcantara","year":"2021","unstructured":"Alcantara M, Mezei MM, Baker SK, et\u00a0al. Canadian guidelines for hereditary transthyretin amyloidosis polyneuropathy management. Can J Neurol Sci. 2021. https:\/\/doi.org\/10.1017\/cjn.2021.34.","journal-title":"Can J Neurol Sci"},{"issue":"11","key":"3437_CR8","doi-asserted-by":"publisher","first-page":"1007","DOI":"10.1056\/NEJMoa1805689","volume":"379","author":"MS Maurer","year":"2018","unstructured":"Maurer MS, Schwartz JH, Gundapaneni B, et\u00a0al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007\u201316. https:\/\/doi.org\/10.1056\/NEJMoa1805689.","journal-title":"N Engl J Med"},{"issue":"1","key":"3437_CR9","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1056\/NEJMoa1716793","volume":"379","author":"MD Benson","year":"2018","unstructured":"Benson MD, Waddington-Cruz M, Berk JL, et\u00a0al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. 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A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"CH, NF, and DD report honoraria for speaking engagements and\/or advisory boards with Pfizer, Sobi Therapeutics (formerly Akcea), and Alnylam. DD reports a research grant from Pfizer. NF reports research grants from Pfizer, Sobi Therapeutics, and Alnylam. VB reports consulting fees from Alnylam. AL reports no relevant disclosures.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"248"}}