A Rare Co-occurence of Acromegaly and Attenuated Familial Adenomatous Polyposis in a Young Patient: A Case Report and Review of Colonoscopy Screening Recommendations in Acromegaly

Abstract

Acromegaly raises the incidence of colorectal polyps, leading to recommendations for colonoscopy screening in these patients. Here, we present a case of a patient diagnosed with both acromegaly and multiple colon polyps. A 29-year-old male patient was referred to our clinic due to typical symptoms of acromegaly. A macroadenoma was detected on pituitary magnetic resonance imaging. Comprehensive complication screening was performed after confirming the diagnosis of acromegaly. A colonoscopy revealed numerous polyps. Several polyps were removed, and a subsequent colonoscopy was recommended to remove the remaining polyps. The patient underwent successful transsphenoidal surgery for acromegaly. Postoperatively, he underwent a repeat colonoscopy, during which multiple polypectomies were performed. Genetic testing was performed because of a family history of multiple polyps; no clinically significant pathogenic variants were detected. Following a gastroenterological evaluation, the patient with fewer than 100 polyps and a family history was clinically diagnosed with attenuated familial adenomatous polyposis (aFAP). Attenuated familial adenomatous polyposis represents a milder phenotype of familial adenomatous polyposis characterized by 10-100 colon polyps. Genetic mutations are rare and typically manifest with a familial predisposition. Regular colonoscopic surveillance and polypectomy are recommended. The polyps were excised in this case, and ongoing follow-up colonoscopies were planned.

Cite this article as: Durantas H, Hepsen S, Boz O, Saat H, Erdal H, Cakal E. A rare co-occurrence of acromegaly and attenuated familial adenomatous polyposis in a young patient: A case report and review of colonoscopy screening recommendations in acromegaly. Endocrinol Res Pract. 2025;29(1):69-72