Handbook of Genetic Counseling/Familial Adenomatous Polyposis-2

Familial Adenomatous Polyposis Contracting and Strategies for Giving Bad News Introductions Find out how much patient understands At your appointment a few weeks ago, we talked about familial adenomatous polyposis (FAP) a condition caused by a change or mutation in the APC gene This mutation causes an individual to develop many polyps in the colon and increases the risk of developing colon cancer At that visit, you had blood drawn for genetic testing How have you been handling things since then? Have you been very worried about the results of this testing Give results I'm sorry but I have some bad news for you The results of the genetic test show that you have a mutation in the APC gene, indicating that you have FAP How are you feeling? Find out how much patient wants to know Do you have any questions? If you would like we could talk about how this happened, or if you prefer we could talk about management recommendations Would you like to talk about this now or should we choose another time? Set up another appointment in a few days to talk more about the diagnosis and treatment options Would be good if you could bring along a friend or family member for support Respond to patients feelings What is bothering you the most? Who have you told about this? What have you told them? How are you feeling about this? Use empathy, silence, and open-ended questions when appropriate Assess patient's support system, coping strategies Would it be helpful for you to talk with someone who has been in a similar situation? Planning and follow-up Provide summary of session We've talked about a lot of things, but this is what is most important Before we wrap up, do you have any other questions or concerns Remind about plans to meet again in a few days Encourage her to write down any questions and bring them to the session Provide written material and my card with offer to speak with her at any time over the next few days Overview of FAP Colorectal cancer Risk factors Aging Personal history of CRC or adenomas High fat, low fiber diet Family history of CRC Inflammatory bowel disease Hereditary colon cancer syndrome About 1% of colorectal cancer due to FAP Etiology Due to mutation in APC tumor suppressor gene on chromosome 5q Autosomal dominant inheritance Lifetime risk of colorectal cancer is greater than 95% Incidence 1 in 6000 to 1 in 13,000 Clinical features Adenomas (>90%) Risk for colorectal cancer is 100% in untreated patients - usually by age 40 More than 100 adenomas is diagnostic Extracolonic tumors that may or may not be cancerous Upper GI tract Desmoid colon Osteoma Thyroid Brain Hepatoblastoma Congenital hypertrophy of the retinal pigment epithelium (CHRPE) Management of person positive for APC mutation Recommend annual colonoscopy Prophylactic colectomy once adenomas found Total colectomy with ileorectal anastomosis Colon removed, rectum intact, connect small bowel to rectum Still need sigmoidoscopy every 6 months for 3 years and endoscopy every 4 years About 50% require rectal excision later in life because adenomas found Chronic diarrhea is side effect because part of colon that is removed is responsible for water resorption Total proctocolectomy with ileal pouch formation Form pouch from ileum to serve as partial rectum so don't have colostomy and bag Recommended if patient has mutation in exon 15G of APC gene (predicts severe rectal involvement) Polyps may still develop in ileal pouch after about 3-5 years Chronic diarrhea is side effect Must have colostomy during healing Colon connected to opening in skin on abdomen Bag collects waste and must be changed regularly Recommend chemoprevention after adenomas identified No drug prevents polyps enough to avoid colectomy Currently studies trying to identify ways to delay colectomy with drugs that prevent polyps Screening for extracolonic tumors Psychosocial Issues Shock over new diagnosis Denial or disbelief Fear and anxiety about future Past experiences with father's death and brother's diagnosis Anger and blame Feelings of hopelessness, depression Concern about what friends might think Notes The information in this outline was last updated in 2003.