A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature

Familial adenomatous polyposis syndrome (FAP) is a rare multisystemic disorder that affects individuals who have mutation in the adenomatous polyposis coli (APC) gene. If left untreated, the polyps progress over a period of 15–20 years to adenocarcinoma in virtually 100% of cases. The syndrome is un...

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Main Authors: Kenneth A. Agu, Jude K. Ede, EvanTherese Nwosu, Ikechukwu S. Eze, Emeka Eze, Chukwuemelie B. Okechukwu, Ifeoma Madichie
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-04-01
Series:International Journal of Medicine and Health Development
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Online Access:https://doi.org/10.4103/ijmh.ijmh_57_24
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author Kenneth A. Agu
Jude K. Ede
EvanTherese Nwosu
Ikechukwu S. Eze
Emeka Eze
Chukwuemelie B. Okechukwu
Ifeoma Madichie
author_facet Kenneth A. Agu
Jude K. Ede
EvanTherese Nwosu
Ikechukwu S. Eze
Emeka Eze
Chukwuemelie B. Okechukwu
Ifeoma Madichie
author_sort Kenneth A. Agu
collection DOAJ
description Familial adenomatous polyposis syndrome (FAP) is a rare multisystemic disorder that affects individuals who have mutation in the adenomatous polyposis coli (APC) gene. If left untreated, the polyps progress over a period of 15–20 years to adenocarcinoma in virtually 100% of cases. The syndrome is uncommon worldwide and very rare in Nigeria. We report the case of a 45-year-old male who presented with recurrent lower gastrointestinal bleeding and change in bowel habits. Hundreds of colonic polyps were identified at colonoscopy, with two large colonic tumors that were observed to be partially obstructing the bowel. There were some extracolonic findings during further investigations. Histology of the obstructing tumors confirmed colonic adenocarcinoma. The patient had detailed clinical evaluation, further diagnostic investigations, and optimization. He subsequently had exploratory laparotomy and total colectomy with ileo-rectal anastomosis and was scheduled for chemotherapy and surveillance for the rectal sleeve using proctoscopy. He will also be monitored for gastric and duodenal polyps.
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institution Kabale University
issn 2635-3695
2667-2863
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publishDate 2025-04-01
publisher Wolters Kluwer Medknow Publications
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series International Journal of Medicine and Health Development
spelling doaj-art-61b0d186857a42a6b83faef87ed2514f2025-08-20T03:49:46ZengWolters Kluwer Medknow PublicationsInternational Journal of Medicine and Health Development2635-36952667-28632025-04-0130219620010.4103/ijmh.ijmh_57_24A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the LiteratureKenneth A. AguJude K. EdeEvanTherese NwosuIkechukwu S. EzeEmeka EzeChukwuemelie B. OkechukwuIfeoma MadichieFamilial adenomatous polyposis syndrome (FAP) is a rare multisystemic disorder that affects individuals who have mutation in the adenomatous polyposis coli (APC) gene. If left untreated, the polyps progress over a period of 15–20 years to adenocarcinoma in virtually 100% of cases. The syndrome is uncommon worldwide and very rare in Nigeria. We report the case of a 45-year-old male who presented with recurrent lower gastrointestinal bleeding and change in bowel habits. Hundreds of colonic polyps were identified at colonoscopy, with two large colonic tumors that were observed to be partially obstructing the bowel. There were some extracolonic findings during further investigations. Histology of the obstructing tumors confirmed colonic adenocarcinoma. The patient had detailed clinical evaluation, further diagnostic investigations, and optimization. He subsequently had exploratory laparotomy and total colectomy with ileo-rectal anastomosis and was scheduled for chemotherapy and surveillance for the rectal sleeve using proctoscopy. He will also be monitored for gastric and duodenal polyps.https://doi.org/10.4103/ijmh.ijmh_57_24adenomatousfamilialpolyposis
spellingShingle Kenneth A. Agu
Jude K. Ede
EvanTherese Nwosu
Ikechukwu S. Eze
Emeka Eze
Chukwuemelie B. Okechukwu
Ifeoma Madichie
A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature
International Journal of Medicine and Health Development
adenomatous
familial
polyposis
title A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature
title_full A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature
title_fullStr A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature
title_full_unstemmed A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature
title_short A Rare Case of Familial Adenomatous Polyposis in South Eastern Nigeria: A Case Report and Review of the Literature
title_sort rare case of familial adenomatous polyposis in south eastern nigeria a case report and review of the literature
topic adenomatous
familial
polyposis
url https://doi.org/10.4103/ijmh.ijmh_57_24
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