[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-338139-105":3,"detail-sidebar-cat-0-en-105":81,"doc-detail-338139-en":130},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","familial-adenomatous-polyposis-a-case-report","Familial adenomatous polyposis: a case report","","Familial adenomatous polyposis is defined by multiple colorectal adenomatous polyps and germline mutations in APC-related pathways. It is rare globally and contributes to a small fraction of colorectal cancers, yet rising colon-cancer incidence in low- and middle-income countries is driven by limited early detection and constrained access to multidisciplinary care. A resource-sensitive diagnostic and treatment prioritization approach is emphasized to improve outcomes. The report describes a case presenting as adenocarcinoma with numerous colorectal adenomatous polyps.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/familial-adenomatous-polyposis-a-case-report/338139/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/familial-adenomatous-polyposis-a-case-report/338139.png","ImageObject",300,407,{"name":42,"@type":43},"Theodore","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-29","2026-09-21",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",9,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What causes familial adenomatous polyposis, and what is its typical clinical hallmark?","Question",{"text":63,"@type":64},"It is caused by germline mutations in the tumor suppressor pathway, particularly involving APC. Clinically, it is characterized by multiple colorectal adenomatous polyps, with classic forms often developing very high polyp burdens and a high colorectal cancer risk.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How was the patient’s diagnosis established in this case report?",{"text":68,"@type":64},"A 22-year-old Ethiopian woman presented with rectal bleeding, and imaging suggested a rectal tumor. Colonoscopy identified familial adenomatous polyposis with severe dysplasia, and colonoscopy-guided biopsy supported adenocarcinoma with familial adenomatous polyposis.",{"name":70,"@type":61,"acceptedAnswer":71},"Why is familial adenomatous polyposis important to consider when evaluating rectal bleeding?",{"text":72,"@type":64},"The conclusion states that it should be included in the differential diagnosis for early diagnostic workup, management planning, and genetic counseling/testing, especially in individuals with a family history of colonic adenocarcinoma.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},338139,1790116018,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,115,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":107,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":108,"slug":109},7,40,"healthcare",{"id":111,"doc_module":4,"doc_module_name":25,"category_name":112,"show_sort_weight":113,"slug":114},8,"Research & Report",30,"research-report",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":107,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":55,"language":139,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":12,"update_tm":143,"read_time":144},7971461740886,"https://ap-avatar.wpscdn.com/davatar_3d24733baf745e90a7e4bdd5f77d97b2","Kindie et al. Journal of Medical Case Reports (2024) 18:415  \n[https://doi.org/10.1186/s13256-024-04724-8](https://doi.org/10.1186/s13256-024-04724-8)  \nJournal of Medical Case Reports  \n CASE REPORT Open Access  \nFamilial adenomatous polyposis: a case report  \nEndeshaw Asaye Kindie1*, Tigist Desta Beyera2, Ephrem Tafesse Teferi1, Daniel Zemenfes Ashebir3 and Henok Bahru Wodajeneh3  \nAbstract  \nBackground Familial adenomatous polyposis is characterized by the presence of multiple colorectal adenomatous polyps and caused by germline mutations in the tumor suppressor gene and adenomatous polyposis coli, located on chromosome 5q21–q22 . Familial adenomatous polyposis occurs in approximately 1/10,000 to 1/30,000 live births, and accounts for less than 1% of all colorectal cancers in the USA. It affects both sexes equally and has a worldwide distribution. The incidence of colon cancer in low-and middle-income countries is rising. In addition to the increasing incidence, lack of early detection and impeded access to optimal multidisciplinary treatment may worsen survival outcomes. Developing quality diagnostic services in the proper health context is crucial for early diagnosis and successful therapy of patients with colorectal cancer, and applying a resource-sensitive approach to prioritize essential treatments on the basis of effectiveness and cost-effectiveness is key to overcoming barriers in low-and middleincome countries. We report a case of familial adenomatous polyposis presenting as adenocarcinoma with multiple colorectal adenomatous polyps. The diagnosis of familial adenomatous polyposis was made by the presence of numerous colorectal adenomatous polyps and family history of colonic adenocarcinoma. Due to its rarity, we decided to report it.  \nCase presentation A 22-year-old Ethiopian female patient presented to Addis Ababa University College of Health science, Addis Ababa, Ethiopia with rectal bleeding. Abdominopelvic computed tomography scan was done and showed distal rectal asymmetric anterior wall thickening in keeping with rectal tumor. Colonoscopy was done and she was diagnosed to have familial adenomatous polyposis with severe dysplasia. In the meantime, colonoscopy guided biopsy was taken and the diagnosis of adenocarcinoma with familial adenomatous polyposis was rendered. For this, total proctocolectomy was carried out. On laparotomy there was also incidental finding of left ovarian deposition for which left salpingo-oophorectomy was done, and 4 weeks after surgical resection, the patient was started on oxaliplatin, leucovorin, fluorouracil chemotherapy regimen.  \nConclusion In the clinical evaluation of a patient with rectal bleeding, familial adenomatous polyposis must be considered as a differential diagnosis in subjects having family history of colonic adenocarcinoma for early diagnostic workup, management, family genetic counseling, and testing.  \nKeywords Adenomatous polyposis coli, Colorectal adenocarcinoma, Familial adenomatous polyposis, Low-and middle-income countries  \n*Correspondence:  \nEndeshaw Asaye Kindie  \n[endeshaw.asaye@gmail.com](endeshaw.asaye@gmail.com)  \nFull list of author information is available at the end of the article  \n© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commo","cbCaitl5rtR2mXRs","https://ap.wps.com/l/cbCaitl5rtR2mXRs","pdf",2531281,"English","# Abstract\n# Case presentation\n# Conclusion\n# Keywords","[{\"question\":\"What causes familial adenomatous polyposis, and what is its typical clinical hallmark?\",\"answer\":\"It is caused by germline mutations in the tumor suppressor pathway, particularly involving APC. Clinically, it is characterized by multiple colorectal adenomatous polyps, with classic forms often developing very high polyp burdens and a high colorectal cancer risk.\"},{\"question\":\"How was the patient’s diagnosis established in this case report?\",\"answer\":\"A 22-year-old Ethiopian woman presented with rectal bleeding, and imaging suggested a rectal tumor. Colonoscopy identified familial adenomatous polyposis with severe dysplasia, and colonoscopy-guided biopsy supported adenocarcinoma with familial adenomatous polyposis.\"},{\"question\":\"Why is familial adenomatous polyposis important to consider when evaluating rectal bleeding?\",\"answer\":\"The conclusion states that it should be included in the differential diagnosis for early diagnostic workup, management planning, and genetic counseling/testing, especially in individuals with a family history of colonic adenocarcinoma.\"}]","Familial adenomatous polyposis: a case report | PDF",1790022136,23]