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In the early stages of amyloidosis, gastrointestinal (GI) symptoms are uncommon. We describe a rare case of hereditary transthyretin amyloidosis (ATTRv) with involvement of the heart, nervous system and GI tract. A man in his 60s was hospitalised due to chronic diarrhoea, orthostatic hypotension, malabsorption and weight loss. An organic origin for the diarrhoea was suspected, but the most common causes were ruled out. The review of GI biopsies and an abdominal fat aspirate confirmed the diagnosis of amyloidosis. The diagnosis of ATTRv amyloidosis with GI presentation is challenging, especially in the early stages, and misdiagnosis is common. The recent approval of therapies emphasises the importance of early diagnosis to prevent irreversible organ damage.<\/jats:p>","DOI":"10.1136\/bcr-2023-256673","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T13:05:57Z","timestamp":1697461557000},"page":"e256673","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Severe chronic diarrhoea caused by hereditary transthyretin amyloidosis"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7676-4308","authenticated-orcid":false,"given":"Angelica","family":"Toppeta","sequence":"first","affiliation":[{"name":"Gastroenterology Unit, Department of Biomedical and Clinical Sciences, University of Milan, Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Dell'Era","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit, Department of Biomedical and Clinical Sciences, University of Milan, Milano, Italy"},{"name":"Gastroenterology and Endoscopy Unit, ASST Fatebenefratelli-Sacco, Milano, Lombardia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Molteni","sequence":"additional","affiliation":[{"name":"Gastroenterology and Endoscopy Unit, ASST Fatebenefratelli-Sacco, Milano, Lombardia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandro","family":"Ardizzone","sequence":"additional","affiliation":[{"name":"Gastroenterology and Endoscopy Unit, ASST Fatebenefratelli-Sacco, Milano, Lombardia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,10,16]]},"reference":[{"key":"2025082700350001000_16.10.e256673.1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1080\/13506129.2022.2147636","article-title":"Amyloid nomenclature 2022: update, novel proteins, and recommendations by the International society of Amyloidosis (ISA) nomenclature committee","volume":"29","author":"Buxbaum","year":"2022","journal-title":"Amyloid"},{"key":"2025082700350001000_16.10.e256673.2","doi-asserted-by":"crossref","first-page":"403","DOI":"10.2169\/internalmedicine.53.0898","article-title":"Clinical manifestations at diagnosis in Japanese patients with systemic AL Amyloidosis: a retrospective study of 202 cases with a special attention to uncommon symptoms.intern MED","volume":"53","author":"Matsuda","year":"2014","journal-title":"Intern Med"},{"key":"2025082700350001000_16.10.e256673.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra023144"},{"key":"2025082700350001000_16.10.e256673.4","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-308724"},{"issue":"Suppl 1","key":"2025082700350001000_16.10.e256673.5","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1097\/WCO.0000000000000289","article-title":"Current opinion first European consensus for diagnosis, management, and treatment of Transthyretin familial Amyloid polyneuropathy","volume":"29 Suppl 1","author":"Adams","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"2025082700350001000_16.10.e256673.6","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101024200"},{"issue":"Suppl 2","key":"2025082700350001000_16.10.e256673.7","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1007\/s10072-020-04889-2","article-title":"Hereditary Transthyretin Amyloidosis overview","volume":"43","author":"Manganelli","year":"2022","journal-title":"Neurol Sci"},{"key":"2025082700350001000_16.10.e256673.8","doi-asserted-by":"publisher","DOI":"10.2217\/nmt-2018-0033"},{"key":"2025082700350001000_16.10.e256673.9","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.11.1771"},{"key":"2025082700350001000_16.10.e256673.10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.2003.01173.x"},{"key":"2025082700350001000_16.10.e256673.11","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-9-61","article-title":"THAOS: gastrointestinal manifestations of Transthyretin Amyloidosis - 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