Current management of familial adenomatous polyposis

ABSTRACT

Introduction

APC-associated polyposis is a rare hereditary disorder characterized by the development of multiple adenomas in the digestive tract. Individuals with APC-associated polyposis need to be managed by specialized multidisciplinary teams in dedicated centers.

Areas covered

The study aimed to review the literature on Familial adenomatous polyposis (FAP) to provide an update on diagnostic and surgical management while focusing on strategies to minimize the risk of desmoid-type fibromatosis, cancer in anorectal remnant, and postoperative complications. FAP individuals require a comprehensive approach that includes diagnosis, surveillance, preventive surgery, and addressing specific extracolonic concerns such as duodenal and desmoid tumors. Management should be personalized considering all factors: genotype, phenotype, and personal needs. Total colectomy and ileo-rectal anastomosis have been shown to yield superior QoL results when compared to Restorative Procto colectomy and ileopouch-anal anastomosis with acceptable oncological risk of developing cancer in the rectal stump if patients rigorously adhere to lifelong endoscopic surveillance. Additionally, a low-inflammatory diet may prevent adenomas and cancer by modulating systemic and tissue inflammatory indices.

Expert opinion

FAP management requires a multidisciplinary and personalized approach. Integrating genetic advances, innovative surveillance techniques, and emerging therapeutic modalities will contribute to improving outcomes and quality of life for FAP individuals.

KEYWORDS:

• APC-associated polyposis
• familial adenomatous polyposis (FAP)
• colorectal cancer
• genetic testing
• surveillance
• desmoid-type fibromatosis (DTF)
• laparoscopic total colectomy/ileorectal anastomosis (IRA)
• total proctocolectomy/ileal pouch-anal anastomosis (IPAA)

Article highlights

• APC-associated polyposis is a rare hereditary disease characterized by the development of multiple adenomas in the digestive tract.

• Desmoid-type fibromatosis (DTF) and duodenal tumors have emerged as the primary challenging extracolonic manifestation.

• The optimal timing and which surgical procedure is the best option are still a matter of debate.

• Surgical decisions should be the result of the careful assessment of clinical and pathologic features and patients’ personal preferences.

• A low-inflammatory Mediterranean diet may potentially prevent adenomas and cancer in FAP patients by modulating systemic and tissue inflammatory indices.

• Research efforts are ongoing to explore the needs and to improve the quality of life, and reduce the risk of cancer.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.