{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T16:07:53Z","timestamp":1789142873823,"version":"build-2803163510"},"reference-count":16,"publisher":"University of Toronto Press Inc. (UTPress)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Invest Med"],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A 26-year-old woman was diagnosed with hereditary hemorrhagic telangiectasia \u2013 juvenile polyposis syndrome (HHT-JPS) after an incidental finding of a pulmonary arteriovenous malformation. Molecular genetic testing confirmed the presence of a pathogenic\n                    <jats:italic toggle=\"yes\">SMAD4<\/jats:italic>\n                    variant, later found to be present in several other family members who were all previously labelled as having familial adenomatous polyposis. This short report contrasts and compares the conditions and highlights the importance of using genetic testing to distinguish similar presentations of gastrointestinal polyps in association with genetic conditions such as HHT-JPS and FAP. We highlight that detection of\n                    <jats:italic toggle=\"yes\">SMAD4<\/jats:italic>\n                    mutations can distinguish individuals with HHT-JPS from those with FAP who do not appear to present with arteriovenous malformations or notable criteria for HHT. This distinction may have significant implications for those with a longstanding familial diagnosis of FAP, as HHT-JPS entails different management considerations.\n                  <\/jats:p>","DOI":"10.3138\/cim-2026-0004","type":"journal-article","created":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:46:39Z","timestamp":1787751999000},"page":"40-44","source":"Crossref","is-referenced-by-count":0,"title":["Verifying genetic diagnoses: Hereditary hemorrhagic telangiectasia \u2013 juvenile polyposis syndrome (HHT-JPS) or familial adenomatous polyposis (FAP)?"],"prefix":"10.3138","volume":"49","author":[{"given":"Mitchell","family":"Wagner","sequence":"first","affiliation":[{"name":"Department of Medicine, Faculty of Medicine &amp; Dentistry, University of Alberta, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Beke","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine &amp; Dentistry, University of Alberta, Edmonton, Alberta, Canada"},{"name":"Edmonton HHT Centre, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Wilton-Clark","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine &amp; Dentistry, University of Alberta, Edmonton, Alberta, Canada"},{"name":"Edmonton HHT Centre, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Zepeda-Gomez","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine &amp; Dentistry, University of Alberta, Edmonton, Alberta, Canada"},{"name":"Edmonton HHT Centre, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilini","family":"Vethanayagam","sequence":"additional","affiliation":[{"name":"Department of Medicine, Faculty of Medicine &amp; Dentistry, University of Alberta, Edmonton, Alberta, Canada"},{"name":"Edmonton HHT Centre, Edmonton, Alberta, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1696","reference":[{"key":"e_1_3_11_2_2","volume-title":"GeneReviews\u00ae","author":"McDonald J","year":"1993","unstructured":"McDonald J, Gossage JR, Stevenson DA. Hereditary hemorrhagic telangiectasia. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews\u00ae. University of Washington, Seattle; 1993. Accessed April 21, 2026. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1351\/"},{"issue":"1","key":"e_1_3_11_3_2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1186\/s12876-020-01238-7","article-title":"Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review","volume":"20","author":"Gao XH","year":"2020","unstructured":"Gao XH, Li J, Zhao ZY, . Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review. BMC Gastroenterol. 2020;20(1):167. https:\/\/doi.org\/10.1186\/s12876-020-01238-7","journal-title":"BMC Gastroenterol"},{"key":"e_1_3_11_4_2","volume-title":"GeneReviews\u00ae","author":"Yen T","year":"1993","unstructured":"Yen T, Stanich PP, Axell L, . 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