GASTROENTEROLOGY ARTICLE OF THE WEEK

February 10, 2000 

 1.  Recommended surveillance guidelines for family members of subjects with FAP include

a.      yearly sigmoidoscopy starting at age 20 in all first degree relatives

b.      those with positive genetic tests demonstrating the APC mutation, should undergo yearly sigmoidoscopy starting at age 10-12

c.      those who test negative for the gene mutation do not need special surveillance

d.      those who test negative for the mutation should undergo flexible sigmoidoscopy at ages 18, 25 and 35.

e.      All family members of subjects with FAP should undergo yearly colonoscopy starting at age 10-12. 

2.  Gardner syndrome

a.      is a clinical entity distinct from FAP

b.      is characterized by the presence of colon polyps in association with osteomas, epidermoid cysts and dental abnormalities

c.      is associated with central nervous system tumors

d.      is considered to be a variant of FAP 

True or False

 3.  Treatment for ampullary carcinoma in patients with FAP requires the performance of a Whipple procedure (pancreatico-duodenectomy)

 4.  Congenital hypertrophy of the retinal pigment (CHRP) develops in > 60% of patients with FAP, it is the most common extra intestinal manifestation of FAP.

 5.  EGD with side-viewer endoscope is recommended at the time the colonic polyps are identified or at age 20-25, with follow up exams every 1 to 3 years 

6.  The genetic defect in FAP is located at chromosome 5q21, also known as the APC gene (adenomatous polyposis coli gene) 

7.  Approximately 30% of patients with FAP have no prior family history of FAP 

8.  All patients with FAP, including those with the attenuated phenotype, develop thousands of polyps in the colon starting during puberty. 

9.  Children at risk for FAP are also at risk for hepatoblastoma and need to be screened. 

10.  After colectomy, periodic ileoscopy is recommended as part of the patient’s surveillance. 

11.  Colon polyps develop in 15% of affected individuals by age 10, colon cancer do not occur prior to age 20. 

12.  Sulindac therapy may decrease the size and number of colonic and proximal small bowel adenomas. 

13.  Adenomatous polyps of the stomach and small bowel occur in 100% of FAP patients, 5% to 8% of patients with FAP eventually develop duodenal or periampullary carcinoma. 

14.  Regarding management and prognosis of FAP

a.      surgery with proctocolectomy is curative, tumors do not develop in the small bowel

b.      desmoids tumors can occur in 10% of patients, although not malignant, they can be aggressive due to their size

c.      in patients with retained rectum risk of cancer in the rectal segment is 25%

d.      untreated, FAP carries a 100% risk of colon cancer, usually by age 30-40 

15.  You are consulted about a 22-year-old male whose brother has FAP and is positive for the APC mutation.  Your patient, however, tested negative for the APC mutation, you would recommend

a.      a flexible sigmoidoscopy now and if negative, no further testing

b.      a colonoscopy and upper endoscopy, using a side viewing endoscope for the upper exam

c.      a flexible sigmoidoscopy, if negative, repeat at age 25 and 35.

d.      No further follow up

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