Melena Revealing an Attenuated Familial Adenomatous Polyposis in an Elderly Patient: A Case Report

Asmaa N'khaili; Hala Aouroud; Riad Semlali; Fatimaezzahra Chakor; Adil Ait Errami; Sofia Oubaha; Zouhour  Semlani; Khadija Krati

doi:10.23958/ijirms/vol07-i01/1324

Open Access Publication ISSN: 2455-8737 |

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Case Report | Open Access

Vol. 7 No. 01 (2022) | Page No.: 55 - 57 | https://doi.org/10.23958/ijirms/vol07-i01/1324

Melena Revealing an Attenuated Familial Adenomatous Polyposis in an Elderly Patient: A Case Report

Asmaa N'khaili⁺⁻
Hala Aouroud⁺⁻
Riad Semlali⁺⁻
Fatimaezzahra Chakor⁺⁻
Adil Ait Errami⁺⁻
Sofia Oubaha⁺⁻
Zouhour Semlani⁺⁻
Khadija Krati⁺⁻

Department of Gastroenterology Mohammed VI Marrakech University Hospital Center, Marrakech, Morocco

Laboratory of Physiology, Faculty of Medicine and Pharmacy of Marrakech, Morocco

CHU mohamed VI

Department of Gastroenterology Mohammed VI Marrakech University Hospital Center, Marrakech, Morocco

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Published: 2022-01-14

Abstract

We describe a patient who was diagnosed with multiple tubulleuvillous adenomas with focus of high-grade tubular dysplasia all over the colonic mucosa, discovered during a colonoscopy performed during an episode of melena. Genetic testing has identified a germline truncating mutation at the codon (5q22.2) of the adenomatous polyposis (APC) gene. This mutation is localized in the alternately spliced region of exon 12, a region which is associated with an attenuated familial adenomatous polyposis (PAFA) phenotype. Our patient had no extracolic manifestations of PAFA and none of her relatives had a history of rectocolic polyposis. Treatment consisted of colectomy with ileorectal anastomosis. PAFA is an ill-defined condition of unknown prevalence and penetrance, requiring individual treatment and lifelong monitoring. It is essential to identify these patients with a view to setting up appropriate endoscopic surveillance at an early age in family members carrying this mutation, due to the marked intra-family phenotypic variance.

Keywords: attenuated familial adenomatous polyposis, adenomatous polyposis gene, exon12, colectomy with ileorectal anastomosis , case report, Morocco

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How to Cite

N'khaili, A., Aouroud, H., Semlali, R., Chakor, F., Errami, A. A., Oubaha, S., … Krati, K. (2022). Melena Revealing an Attenuated Familial Adenomatous Polyposis in an Elderly Patient: A Case Report. International Journal of Innovative Research in Medical Science, 7(01), 55–57. https://doi.org/10.23958/ijirms/vol07-i01/1324

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Copyright © 2022 Asmaa N'khaili Hala Aouroud Riad Semlali Fatimaezzahra Chakor Adil Ait Errami Sofia Oubaha Zouhour Semlani Khadija Krati this is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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