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.