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