Management of Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder driven by germline mutations in the APC gene, leading to hundreds or thousands of colorectal adenomas and an almost inevitable progression to carcinoma without intervention. Management strategies aim to prevent malignant transformation while preserving quality of life. Prophylactic surgery remains the cornerstone of care, with options including total colectomy with ileorectal anastomosis (IRA) and restorative proctocolectomy with ileal pouch–anal anastomosis (IPAA). Surgical choice is influenced by polyp burden in the rectum, patient age, and functional considerations. Lifelong endoscopic surveillance of the rectal remnant or pouch is essential to detect and treat metachronous adenomas. Chemoprevention with non-steroidal anti-inflammatory drugs and selective cyclooxygenase-2 inhibitors has shown promise in reducing polyp number and delaying surgery. Management of extracolonic manifestations, such as duodenal adenomas and desmoid tumours, requires multidisciplinary coordination, with endoscopic resection or pharmacological therapies employed as needed. Ongoing research seeks to refine genotype–phenotype correlations to personalise surveillance intervals and therapeutic approaches. Dietary and lifestyle interventions may mitigate diarrhoeal symptoms after colectomy and influence mucosal inflammation, supporting an integrated care model. Globally, improved genetic testing, early detection programmes and minimally invasive surgical techniques have expanded access to effective management and reduced colorectal cancer mortality in FAP cohorts.

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Management of Familial Adenomatous Polyposis publication trend

The graph below shows the total number of articles in management of familial adenomatous polyposis across all publications each year (not limited to Nature Index journals).

Technical terms

APC gene: A tumour suppressor gene whose germline mutation leads to uncontrolled colonic epithelial proliferation in FAP.

Colectomy: Surgical removal of the colon, often performed prophylactically in FAP to prevent colorectal cancer.

Ileorectal anastomosis (IRA): A surgical procedure connecting the end of the small intestine to the rectum after colectomy, preserving rectal function but requiring ongoing surveillance.

Ileal pouch–anal anastomosis (IPAA): Reconstruction of the gastrointestinal tract by creating a reservoir (pouch) from the ileum and connecting it to the anus after proctocolectomy.

Endoscopic surveillance: Periodic examination of the gastrointestinal mucosa with a flexible camera to detect and remove polyps or early cancers.

Spigelman classification: A staging system for duodenal polyposis in FAP that guides the frequency of endoscopic follow-up and therapeutic interventions.

References

1. Prevalence and Management of Cancer of the Rectal Stump after Total Colectomy and Rectal Sparing in Patients with Familial Polyposis: Results from a Registry-Based Study. Cancers (2022).
2. Endoscopic Management of Adenomas in the Ileal Pouch and the Rectal Remnant after Surgical Treatment in Familial Adenomatous Polyposis. Journal of Clinical Medicine (2022).
3. Long-term prognosis after stapled and hand-sewn ileal pouch–anal anastomoses for familial adenomatous polyposis: a multicenter retrospective study. International Journal of Colorectal Disease (2024).
4. Management of Dietary Habits and Diarrhea in Fap Individuals: A Mediterranean Low-Inflammatory Dietary Intervention. Nutrients (2021).