Histopathological Complexities and Diagnostic Challenges in Familial Adenomatous Polyposis: A Case Report

Familial adenomatous polyposis (FAP) is a rare inherited disorder characterized by numerous adenomatous polyps throughout the colon and rectum, leading to a significantly increased risk of colorectal cancer. We present the case of a 19-year-old male patient with a known family history of FAP who presented with recurrent lower abdominal pain, altered bowel habits, and rectal bleeding. Initial examination identified rectal polyps, and subsequent colonoscopy revealed multiple adenomatous polyps. Histopathological analysis initially raised the possibility of oxyntic adenomas due to the glandular tissue's anastomosing and cribriform pattern. However, further detailed evaluation, which identified a significant population of both chief and parietal cells within the glandular pits, supported the diagnosis of mixed hyperplastic/fundic gland polyps with focal low-grade dysplasia. This case highlights the diagnostic complexities in distinguishing between oxyntic adenomas and mixed hyperplastic/fundic gland polyps in FAP patients, emphasizing the importance of accurate diagnosis in guiding management, including surveillance, surgical intervention, genetic counseling, and lifestyle modifications.

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Journal
Cureus
Published
2024-11-05
DOI
https://doi.org/10.7759/cureus.73052
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Histopathological Complexities and Diagnostic Challenges in Familial Adenomatous Polyposis: A Case Report

Sahar Hafeez, Ali Z Ansari, Srihita Patibandla
Cureus
Genetic factors in colorectal cancer
article

Histopathological Complexities and Diagnostic Challenges in Familial Adenomatous Polyposis: A Case Report

Sahar Hafeez, Ali Z Ansari, Srihita Patibandla
article en

Abstract

Familial adenomatous polyposis (FAP) is a rare inherited disorder characterized by numerous adenomatous polyps throughout the colon and rectum, leading to a significantly increased risk of colorectal cancer. We present the case of a 19-year-old male patient with a known family history of FAP who presented with recurrent lower abdominal pain, altered bowel habits, and rectal bleeding. Initial examination identified rectal polyps, and subsequent colonoscopy revealed multiple adenomatous polyps. Histopathological analysis initially raised the possibility of oxyntic adenomas due to the glandular tissue's anastomosing and cribriform pattern. However, further detailed evaluation, which identified a significant population of both chief and parietal cells within the glandular pits, supported the diagnosis of mixed hyperplastic/fundic gland polyps with focal low-grade dysplasia. This case highlights the diagnostic complexities in distinguishing between oxyntic adenomas and mixed hyperplastic/fundic gland polyps in FAP patients, emphasizing the importance of accurate diagnosis in guiding management, including surveillance, surgical intervention, genetic counseling, and lifestyle modifications.

CureusVol. 16(11)
Trinity Health (US), William Carey University (US), Grand Rapids Women's Health (US)
Zero hunger
Openalex Percentile: Top 68%
Genetic factors in colorectal cancer
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Histopathological Complexities and Diagnostic Challenges in Familial Adenomatous Polyposis: A Case Report — Sahar Hafeez, Ali Z Ansari, et al. · Cureus (2024) | TGRS Research Map | TGRS