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Management

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Primary goals include cancer risk reduction, surveillance, and interventions to treat and/or prevent malignancies.

First Steps after Confirming Diagnosis

  • Assess for evidence of colon polyps or cancer (e.g. rectal bleeding, diarrhea, abdominal pain)
  • Physical examination for extra-intestinal manifestations, including sebaceous cysts or osteomas
  • Ophthalmological examination for CHRPE
  • Endoscopy and screening evaluations to assess extent of disease (see Longitudinal care for recommendations by age group)
  • Colectomy is recommended when greater than 20 adenomatous polyps are present, or when adenomas are large and/or have advanced histology
  • Educate patients regarding screening, prevention and treatment options

Diet, Exercise, and Lifestyle Interventions

None

Longitudinal care

Follow up testing/screening/monitoring.

The following surveillance recommendations should be implemented for:

  • Individuals with a disease-causing mutation in the APC gene.
  • Individuals in whom Familial Adenomatous Polyposis (FAP) is strongly suspected, but genetic testing failed to reveal a disease-causing mutation in the APC gene.
  • Individuals who have not had genetic testing, but have a family member who fits one of the above criteria.
Age(years)Management considerationsFrequency

All

History and physical examination (for extraintestinal manifestations)

Annually

0-7

Consideration of ultrasound and serum alphafetoprotein (AFP) screening for hepatoblastoma

Every 4-6 months

10 to 12+

CBC and CMP
Sigmoidoscopy or colonoscopy

Annually

Biannually, or annually after first polyps detected

18+

Thyroid palpation*
Thyroid ultrasound

Annually
Every 5 years

21+

Colonoscopy

Annually if colectomy is deferred+

25+

Esophagogastroduodenoscopy (EGD)

Every 1-3 years

* Consider follow-up ultrasound and fine-needle aspiration when thyroid nodules are found.
+ See Surgery for colectomy recommendations

Surveillance recommendations differ somewhat for individuals who have undergone colectomy, as well as for individuals with the attenuated FAP subtype. For example, if the rectum is retained, flexible sigmoidoscopy is recommended every six months after colectomy. See Management Consensus Statements and Guidelines for further information.

Care team members

Required:

  • Primary care provider
  • Gastroenterologist
  • Surgeon

As Indicated:

  • Genetic counselor and/or Geneticist
  • Oncologist
  • Social work/Psychology

Physical/occupational/speech/developmental therapy

Additional therapies and support may be necessary for individuals who have undergone colectomy.

Psychology/Counseling

Both a decision to undergo testing and receiving a genetic diagnosis may have psychosocial implications. This may especially be the case for children undergoing genetic testing or screening for FAP and their parents. Counseling may be indicated for:

  • Understanding of and coping with increased risk, uncertainty, and anxiety
  • Decision-making regarding testing, screening, and interventions
  • Body image and self-esteem, and lifestyle changes necessitated by surgical intervention
  • Family communication patterns, privacy, and the right “not to know”
  • Survivor guilt, unresolved grief, parental guilt, and shame
  • Infertility due to cancer treatments

Medications

Indicated

None, except as appropriate for tumors that develop.

Contra-indicated
None

Surgery and/or procedures

ConsiderWhen any of the following are present

Colectomy

20-30 adenomas
Adenoma(s) greater than 0.5-cm
Adenoma(s) with advanced histology

Removal of duodenal adenomas

Associated with symptoms
Greater than 1 cm in diameter
Dysplastic

Removal of osteomas

Associated with symptoms due to location

Excision of desmoid tumors

Associated with symptoms

Fine needle aspiration of thyroid

Thyroid nodule

Thyroidectomy

Thyroid cancer

Other interventions

NSAIDs, such as sulindac, celecoxib, and aspirin are under investigation for prevention or regression of colorectal polyps, but are associated with cardiovascular risks. They are currently not a replacement for colectomy.

Treatments and interventions to avoid

N/A

Reproductive implications

Familial Adenomatous Polyposis (FAP) may affect an individual's decisions about child-bearing as well as options for natural versus assisted conception, alternative family building, and predictive genetic testing.

Effect of the condition on fertility

  • Infertility may be caused in men and women by chemotherapy and radiation treatments for malignancies.
  • Women who have undergone proctocolectomy with ileal pouch-anal anastomosis appear to have reduced fertility, whereas colectomy with ileorectal anastomosois does not appear to affect fertility.

Effect of the condition on pregnancy, delivery and/or the post-partum period

Colectomy confers the same risks for obstetric complications as any major abdominal surgery.

Effect of pregnancy on manifestations of the condition

The development of desmoid tumors may be increased by pregnancy-related hormones.

Prognosis

Penetrance

Lifetime Cancer Risks:

Colorectal*

nearly 100% without colectomy

Small bowel (duodenal)

4-12%

Pancreas

1% or less

Thyroid

up to 10%

CNS (medulloblastoma)

<1%

Liver

1% or less

Attenuated FAP Lifetime Cancer Risks

Individuals with attenuated FAP (AFAP) have fewer colonic polyps (average of 30 but can be >100 in some) than those with classic FAP. The lifetime risk for colorectal cancer in AFAP is 70% by 80 years. The average age of colon cancer diagnosis is 50-55 years, which is 10-15 years later than in individuals with classic FAP. Individuals with AFAP are at increased risk for upper gastrointestinal polyps and cancers, thyroid cancers, and many of the extraintestinal manifestations seen in classic FAP. CHRPE and desmoid tumors are rare.

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Factors affecting expression (variable expressivity)

  • Females with an APC mutation appear to be at greater risk than males for thyroid cancers and desmoid tumors.
  • Abdominal desmoid tumors may occur following abdominal surgery. Desmoid tumors occur in approximately 10% of individuals with FAP. If desmoid tumors occur in the family, the risk to other family members increases to 25%,
  • The majority of hepatoblastomas associated with APC mutations occur in individuals younger than 3 years of age. The hepatoblastoma risk is no longer present after age 7 years of age.
  • Individuals with mutations in the 5’ or 3’ ends of the APC gene generally have an attenuated phenotype, whereas classic FAP is usually associated with mutations in the middle of the gene. However, the presentation may vary among individuals within the same family.

Effect on longevity/lifespan.

None, unless cancer is diagnosed late.

Effect on function and quality of life

Quality of life and function may be influenced by:

  • Burden of frequent screening
  • prophylactic colectomy
  • Impact of cancer and related treatments

Expected response to therapy

  • Prophylactic proctocolectomy with ileal pouch-anal anastomosis reduces the risk for colorectal cancer by 100%, though the pouch must be monitored for polyps.
  • Prophylactic colectomy with ileorectal anastomosis greatly reduces the risk for colorectal cancer, though the risk to develop rectal cancer remains. Thus, the retained rectum should be screened via semiannual flexible sigmoidoscopy.

Presymptomatic or Asymptomatic Patients

  • When FAP has been confirmed or is strongly suspected in the family, at-risk relatives who decline genetic testing should undergo the same screening as those with confirmed APC mutations
  • When an individual tests negative for a known family mutation, screening recommendations for the general population usually apply.
  • When an asymptomatic patient tests positive for a known family mutation, s/he should undergo the same surveillance as other affected individuals.

Consensus Statements and Guidelines

National Comprehensive Cancer Network (NCCN) – Colorectal Cancer Screening (Version 2.2013). Accessed 9/13/13.

Church J, Simmang C; Standards Task Force; American Society of Colon and Rectal Surgeons; Collaborative Group of the Americas on Inherited Colorectal Cancer and the Standards Committee of The American Society of

Colon and Rectal Surgeons. American Society of Clinical Oncology. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum. 2003 Aug;46(8):1001-12.

Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG, Gagel RF, Weitzel J, Morrow M, Weber BL, Giardiello F, Rodriguez-Bigas MA, Church J, Gruber S, Offit K; ASCO; SSO. ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol. 2006 Oct 1;24(28):4642-60.