Knowledge and Awareness of Familial Adenomatous Polyposis Can Save Lives - A Family's Experience

Introduction:  Familial adenomatous polyposis (FAP), an under-recognized inherited autosomal dominant disorder, can lead to cancer of the colon and rectum.^{1, 2, 3, 4} Patients with classic type FAP usually develop hundreds of thousands of noncancerous polyps in the colon by their early teenage years.^{2, 4, 5} If left untreated, these polyps can become malignant leading to early-onset colorectal cancer at an average age of 39.^{1, 4} Patients who have developed symptoms frequently already have cancer.¹ Surgical treatment in symptom-free patients with FAP greatly reduces their risk of cancer and saves lives.² Knowledge of FAP can help WOC nurses recommend candidates for screening.³ A case study of one family demonstrates the value of genetic analysis and nursing’s role. 

Statement of Clinical Problem: In a 600-bed hospital in the southern United States, a 46-year old male and his 11-year old son had genetics testing and colonoscopies, which led to a diagnosis of FAP.

Description of Past Management: Literature regarding nursing care was limited. After reviewing their family history, there were two uncles and the grandmother that developed colon cancer, all at an early age. The 46-year old father had his three sons tested and one had developed FAP. 

Current Clinical Approach: Both the father and son had ileostomy surgery with a two stage procedure ileal pouch anal anastomosis (IPAA). They both needed extra education and support to manage this disease. 

Patient Outcomes: Neither of these two patients developed colon cancer but instead were able to have IPAA procedures. Both patients are passionate about sharing awareness of FAP. 

Conclusions: WOC Nurses who are aware of the genetic implications of FAP can participate in early detection and referral of affected individuals before symptoms develop. They can encourage patients diagnosed with FAP to have their siblings and children genetically tested for FAP.^{3, 4}