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

A bstract 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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Journal
International Journal of Medicine and Health Development
Published
2025-04-01
DOI
https://doi.org/10.4103/ijmh.ijmh_57_24
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

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

I.E. Eze, Jude Kenechukwu Ede, Kenneth A. Agu, E. C. Nwosu et al.
International Journal of Medicine and Health Development
Genetic factors in colorectal cancer
article

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

I.E. Eze, Jude Kenechukwu Ede, Kenneth A. Agu, E. C. Nwosu, Emeka Eze, Chukwuemelie B. Okechukwu, Ifeoma Madichie
article en

Abstract

A bstract 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.

International Journal of Medicine and Health DevelopmentVol. 30(2)
University of Nigeria Teaching Hospital (NG)
Openalex Percentile: Top 91%
Genetic factors in colorectal cancer
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