# 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.