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

Durantas H., Hepsen S., Boz O., Saat H., Erdal H., Cakal E.

ENDOCRINOLOGY RESEARCH AND PRACTICE, cilt.29, sa.1, 2025 (ESCI, Scopus, TRDizin)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 1
  • Basım Tarihi: 2025
  • Doi Numarası: 10.5152/erp.2025.24490
  • Dergi Adı: ENDOCRINOLOGY RESEARCH AND PRACTICE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Gazi Üniversitesi Adresli: Hayır

Özet

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.