• Internal medicine · Sep 2023

    Case Reports

    A Case of Attenuated Familial Adenomatous Polyposis.

    • Makoto Eizuka, Yosuke Toya, Takashi Kosaka, Tomofumi Oizumi, Toshifumi Morishita, Satoshi Kasugai, Shunichi Yanai, Tamotsu Sugai, and Takayuki Matsumoto.
    • Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan.
    • Intern. Med. 2023 Sep 15; 62 (18): 265126542651-2654.

    AbstractA 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.

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