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Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy

Familial adenomatous polyposis (FAP) is a rare syndrome caused by adenomatous polyposis coli (APC) gene mutation resulting in the development of hundreds of adenomatous colorectal polyps. The disease process usually manifests fully by the second decade of life. Total colectomy or restorative proctoc...

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Autores principales: Guzik, Paul, Duarte, Harold J, Parsa, Nour A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9521297/
https://www.ncbi.nlm.nih.gov/pubmed/36185899
http://dx.doi.org/10.7759/cureus.28591
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author Guzik, Paul
Duarte, Harold J
Parsa, Nour A
author_facet Guzik, Paul
Duarte, Harold J
Parsa, Nour A
author_sort Guzik, Paul
collection PubMed
description Familial adenomatous polyposis (FAP) is a rare syndrome caused by adenomatous polyposis coli (APC) gene mutation resulting in the development of hundreds of adenomatous colorectal polyps. The disease process usually manifests fully by the second decade of life. Total colectomy or restorative proctocolectomy is often required to prevent the development of colorectal adenocarcinoma. Routine surveillance following surgery is critical for the early detection of polyps or malignancy. We present a rare case of a 31-year-old male with a history of FAP status post total proctocolectomy with ileal pouch-anal anastomosis (IPAA) who presented with acute exacerbation of lower back pain and new-onset lower extremity paresthesia. Imaging demonstrated an aggressive T12 vertebral body lesion. Pathology following laminectomy demonstrated metastatic adenocarcinoma. Subsequent pouchoscopy revealed a distal 1.5-cm pedunculated lesion arising from remnant rectal tissue with pathology confirming moderately differentiated rectal adenocarcinoma. This patient underwent a prophylactic proctocolectomy 20 years prior to this admission but was lost to follow-up prior to any endoscopic evaluations. Despite postoperative surveillance guidelines and patient counseling, follow-up and recommended endoscopic evaluation are often inadequate. This case examines potential socioeconomic factors influencing the completion of surveillance endoscopy and also represents an opportunity to incorporate education and provide resources to patients with FAP to improve surveillance examinations and mitigate the development of preventable malignancies.
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spelling pubmed-95212972022-09-30 Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy Guzik, Paul Duarte, Harold J Parsa, Nour A Cureus Internal Medicine Familial adenomatous polyposis (FAP) is a rare syndrome caused by adenomatous polyposis coli (APC) gene mutation resulting in the development of hundreds of adenomatous colorectal polyps. The disease process usually manifests fully by the second decade of life. Total colectomy or restorative proctocolectomy is often required to prevent the development of colorectal adenocarcinoma. Routine surveillance following surgery is critical for the early detection of polyps or malignancy. We present a rare case of a 31-year-old male with a history of FAP status post total proctocolectomy with ileal pouch-anal anastomosis (IPAA) who presented with acute exacerbation of lower back pain and new-onset lower extremity paresthesia. Imaging demonstrated an aggressive T12 vertebral body lesion. Pathology following laminectomy demonstrated metastatic adenocarcinoma. Subsequent pouchoscopy revealed a distal 1.5-cm pedunculated lesion arising from remnant rectal tissue with pathology confirming moderately differentiated rectal adenocarcinoma. This patient underwent a prophylactic proctocolectomy 20 years prior to this admission but was lost to follow-up prior to any endoscopic evaluations. Despite postoperative surveillance guidelines and patient counseling, follow-up and recommended endoscopic evaluation are often inadequate. This case examines potential socioeconomic factors influencing the completion of surveillance endoscopy and also represents an opportunity to incorporate education and provide resources to patients with FAP to improve surveillance examinations and mitigate the development of preventable malignancies. Cureus 2022-08-30 /pmc/articles/PMC9521297/ /pubmed/36185899 http://dx.doi.org/10.7759/cureus.28591 Text en Copyright © 2022, Guzik et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Guzik, Paul
Duarte, Harold J
Parsa, Nour A
Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy
title Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy
title_full Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy
title_fullStr Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy
title_full_unstemmed Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy
title_short Metastatic Rectal Adenocarcinoma in Familial Adenomatous Polyposis: A Case of Socioeconomic Factors Influencing Surveillance Endoscopy
title_sort metastatic rectal adenocarcinoma in familial adenomatous polyposis: a case of socioeconomic factors influencing surveillance endoscopy
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9521297/
https://www.ncbi.nlm.nih.gov/pubmed/36185899
http://dx.doi.org/10.7759/cureus.28591
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AT parsanoura metastaticrectaladenocarcinomainfamilialadenomatouspolyposisacaseofsocioeconomicfactorsinfluencingsurveillanceendoscopy