What is the management approach for patients with polyposis, specifically familial adenomatous polyposis (FAP)?

From the Guidelines

Management of familial adenomatous polyposis (FAP) requires a comprehensive approach including surveillance, prophylactic surgery, and lifelong follow-up, with the most recent guidelines recommending colonoscopy starting at age 12 to 14 years for at-risk individuals, as stated in the 2020 guidelines from the British Society of Gastroenterology 1.

Key Components of FAP Management

• Surveillance: Annual colonoscopies should begin at age 12 to 14 years for at-risk individuals, with the interval adjusted based on polyp burden and phenotype, as recommended by the 2020 guidelines from the British Society of Gastroenterology 1.
• Prophylactic Surgery: Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) or total colectomy with ileorectal anastomosis (IRA) is typically recommended between ages 16-25 or when polyp burden becomes significant, as suggested by the American Society of Clinical Oncology clinical practice guideline endorsement of the Familial Risk-Colorectal Cancer: European Society for Medical Oncology clinical practice guidelines 1.
• Chemoprevention: NSAIDs like sulindac or celecoxib may reduce polyp burden but do not eliminate the need for surgery, and should be considered as adjuvant treatments when adenoma recurrence is detected in individuals who have undergone colectomy, as noted in the 2015 guidelines from the American Society of Clinical Oncology 1.
• Genetic Testing: Should be offered to first-degree relatives, as FAP follows autosomal dominant inheritance with nearly 100% penetrance, as emphasized by the 2020 guidelines from the British Society of Gastroenterology 1.
• Lifelong Follow-up: Regular surveillance is essential after surgery, including annual endoscopic examination of the ileal pouch or rectal remnant, upper endoscopy every 1-3 years for duodenal polyps, and screening for extracolonic manifestations, as recommended by the American Society of Clinical Oncology clinical practice guideline endorsement of the Familial Risk-Colorectal Cancer: European Society for Medical Oncology clinical practice guidelines 1.

Importance of Recent Guidelines

The management approach for FAP is intensive because without intervention, FAP patients have nearly 100% lifetime risk of developing colorectal cancer, typically by age 40, due to the APC gene mutation that leads to uncontrolled development of hundreds to thousands of adenomatous polyps throughout the colon, as highlighted by the 2020 guidelines from the British Society of Gastroenterology 1.

Considerations for Clinical Practice

In clinical practice, it is essential to prioritize the most recent and highest quality guidelines, such as those from the British Society of Gastroenterology 1, to ensure that patients with FAP receive the most effective and up-to-date management approach, minimizing their risk of developing colorectal cancer and improving their quality of life.

From the Research

Management Approach for Patients with Polyposis

The management approach for patients with familial adenomatous polyposis (FAP) involves a combination of surgical, endoscopic, and chemopreventive strategies.

• Surgical options, such as prophylactic colectomy, are often considered the gold-standard treatment to reduce the risk of colorectal cancer (CRC) 2.
• Endoscopic surveillance and polypectomy are crucial in managing large bowel disease and delaying or avoiding surgery 3, 4.
• Chemopreventive agents, such as aspirin and non-steroidal anti-inflammatories (NSAIDs), have been studied for their potential to reduce the malignant progression of pre-cancerous lesions, but their benefits in FAP cohorts are still limited 4.

Surgical Management

Surgical options for FAP patients include:

• Prophylactic colectomy, typically by the age of 40, to prevent CRC 2.
• Colectomy with ileorectal anastomosis or restorative proctocolectomy with ileal pouch-anal anastomosis 5.
• Surgical management of extracolonic manifestations, such as desmoid disease, thyroid malignancy, and duodenal polyposis 2, 5.

Endoscopic Management

Endoscopic management of FAP involves:

• Regular surveillance endoscopy to detect and remove colorectal adenomas 3, 4.
• Endoscopic therapy of gastric, duodenal, ampullary, and rectal pouch polyps to reduce morbidity and cancer-related mortality 4.
• Management of gastric polyposis and cancer, including detection, surveillance, and treatment of fundic gland polyps and other dysplastic lesions 6.

Chemopreventive Management

Chemopreventive management of FAP involves:

• The use of chemopreventive agents, such as aspirin and NSAIDs, to reduce the malignant progression of pre-cancerous lesions 4.
• Targeted therapies, such as those targeting the mTOR pathway, to slow the progression of the disease 2.
• Ongoing research into new chemopreventive agents and strategies to improve the management of FAP 3, 4.