Late Diagnosis of Familial Adenomatous Polyposis After Acute Lower Gastrointestinal Bleeding: A Case Report

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by the progressive development of multiple adenomatous polyps along the colon. The majority of individuals develop colorectal cancer by the age of 40 within the evolutionary course of the disease. For this reason, screening family members is essential to enable identification, surveillance, and appropriate intervention. Colonoscopy is an essential examination in the follow-up of these patients. This case report aims to present an unusual case of a patient diagnosed with FAP after acute lower gastrointestinal bleeding at the age of 52. The recovery of the family history and the identification of multiple members with a mutation in the adenomatous polyposis coli (APC) gene supported the diagnosis.

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Journal
Cureus
Published
2024-12-27
DOI
https://doi.org/10.7759/cureus.76467
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Late Diagnosis of Familial Adenomatous Polyposis After Acute Lower Gastrointestinal Bleeding: A Case Report

Ricardo Freire, Violeta Régnier Galvão, Igor Logetto Caetité Gomes, Luciano Falcão Carneiro Filho et al.
Cureus
Genetic factors in colorectal cancer
article

Late Diagnosis of Familial Adenomatous Polyposis After Acute Lower Gastrointestinal Bleeding: A Case Report

Ricardo Freire, Violeta Régnier Galvão, Igor Logetto Caetité Gomes, Luciano Falcão Carneiro Filho, Luma Solidade Barreto
article en

Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by the progressive development of multiple adenomatous polyps along the colon. The majority of individuals develop colorectal cancer by the age of 40 within the evolutionary course of the disease. For this reason, screening family members is essential to enable identification, surveillance, and appropriate intervention. Colonoscopy is an essential examination in the follow-up of these patients. This case report aims to present an unusual case of a patient diagnosed with FAP after acute lower gastrointestinal bleeding at the age of 52. The recovery of the family history and the identification of multiple members with a mutation in the adenomatous polyposis coli (APC) gene supported the diagnosis.

CureusVol. 16(12)
Universidade Estadual de Feira de Santana (BR)
Zero hunger
Openalex Percentile: Top 61%
Genetic factors in colorectal cancer
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