Handbook of Genetic Counseling/Familial Adenomatous Polyposis-2

Familial Adenomatous Polyposis

Contracting and Strategies for Giving Bad NewsEdit

  • 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 FAPEdit

  • 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

NotesEdit

The information in this outline was last updated in 2003.

Last modified on 18 June 2006, at 10:59