Familial adenomatous polyposis (FAP) is a rare hereditary condition marked by thedevelopment of numerous adenomatous polyps in the colon and rectum, significantly elevating therisk of colorectal cancer.

This retrospective study aimed to delineate the epidemiological, clinical, and therapeuticcharacteristics of a cohort of patients followed-up at our institution.

We reviewed the medical records of the patients diagnosed with FAPbetween 2012 and 2025. Data on family history, presenting symptoms, findings from colonoscopy,and therapeutic interventions were analyzed.

Thirty patients were enrolled. The mean age at diagnosis was 49.5 years (range: 17–78), witha male-to-female ratio of 1.14. A family history of FAP was present in 40% of cases. Diagnosis wasmade via family screening in 26.7%, incidentally in 16.7%, and in 56.6% due to digestive symptoms.The attenuated FAP phenotype was predominant, affecting 76.6% of patients. Polyps were mainlyfound in the rectum and descending colon (66.7%). Nine patients (30%) had prophylactic colectomy.Surgery was performed in 70% of the cases after diagnosis of cancerous polyposis. Adenocarcinomawas located in the rectum in 20% of patients and treated by coloproctectomy and ileoanalanastomosis. In 80% of the cases it was located in the colon: 13 patients (61.9%) underwent a totalcolectomy with ileorectal anastomosis, while 2 (9.5%) underwent a coloproctectomy with ileoanalanastomosis. The 5-year recurrence rate was 19%, predominantly involving the rectum. Extra-colonicmanifestations were frequent, with 33.3% of patients presenting with gastric polyps (mostlyhyperplastic), 26.7% with duodenal polyps, 43.3% with thyroid nodules, 10% with retinitispigmentosa, and one patient with desmoid tumors.

This study highlights the critical need for early diagnosis and regular surveillance in FAPpatients. The attenuated phenotype was prevalent, and extra-colonic manifestations were common.Prophylactic colectomy remains the gold standard for colorectal cancer prevention in these patients.