Attenuated Familial Adenomatous Polyposis

Overview

Journal Intern Med

Specialty General Medicine

Date 2023 Feb 1

PMID 36725040

Authors

Makoto Eizuka

Yosuke Toya

Takashi Kosaka

Tomofumi Oizumi

Toshifumi Morishita

Satoshi Kasugai

Shunichi Yanai

Tamotsu Sugai

Takayuki Matsumoto

Affiliations

Soon will be listed here.

Abstract

A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed tomography revealed subcutaneous tumors. Based on these findings, we suspected that gastric polyposis was associated with the APC gene, either attenuated familial adenomatous polyposis (AFAP) or gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). A genetic analysis demonstrated that he had a frameshift variant at codon 1928 of APC, suggesting AFAP. In this era of less Helicobacter pylori infection and frequent use of proton pump inhibitors, diagnoses of AFAP and GAPPS should be considered in patients with prominent gastric fundic gland polyposis.

Citing Articles

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

Logetto Caetite Gomes I, Silva Freire Junior R, Solidade Barreto L, Carlos Cerqueira de Almeida Filho L, Alves Galvao V Cureus. 2025; 16(12):e76467.

PMID: 39867084 PMC: 11767535. DOI: 10.7759/cureus.76467.

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