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Home >Learn > Colon Cancer > Physical Characteristics in People With FAP
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FAP
  Physical Characteristics in People
With FAP
fap chrpe
  By Miriam Komaromy, MD

Reviewed by Peggy Conrad, MS, CGC and Jonathan Terdiman, MD


 

People who have been diagnosed with the hereditary colon cancer syndrome familial adenomatous polyposis, or FAP, often possess some unusual physical features in addition to the characteristic intestinal polyps.

 
 
 

Desmoid Tumors

fap polyps
Approximately 10 percent of FAP patients develop non-cancerous abdominal wall growths.
fap desmoid tumors

Desmoid tumors occur more commonly in female FAP patients than in male patients. These noncancerous growths usually occur in the abdominal wall, especially in old surgical incisions or inside the abdomen itself. (Abdominal surgery seems to increase an individual's likelihood of developing desmoid tumors.) Although these tumors won't spread to other parts of the body, they are locally invasive. This means they can become so large that they interfere with the ability of other organs to function properly. Occasionally, these tumors can be fatal.

Treatment is tricky, because removing them surgically often results in them growing back in the same place — sometimes at an even faster rate than before. However, certain drug treatments — including estrogen blockers, nonsteroidal anti-inflammatory drugs, and chemotherapy — have had some success in slowing the growth of these tumors, or even making them disappear.

fap chrpetop

 

 

Duodenal Adenomatous Polyps

Approximately 80 percent of FAP patients develop polyps in the duodenum, which is the first part of the small intestine. Current research indicates that the chance of such polyps becoming cancerous during an individual's lifetime ranges between 2 percent and 10 percent.

fap polypstop

 

fap growths

Eye Conditions

fap chrpeFour out of five FAP patients have an eye condition called congenital hypertrophy of the retinal pigment epithelium, or CHRPE. Present from birth, this harmless abnormality appears as multiple freckles on the back of the eye and can be detected in an eye exam performed by an opthamologist.

Because CHRPE is easily detectable long before an individual actually develops any intestinal polyps, it can serve as an indicator as to whether a particular member of a FAP-affected family has inherited the syndrome. In FAP families that have this special pigmentation of the retina, virtually all family members who have inherited the FAP gene will have the pigmentation, while nearly all family members who have not inherited the FAP gene will not have the pigmentation. Therefore, in families that are known to have CHRPE, an eye exam can help determine which members of the family have inherited the syndrome.

fap chrpetop

 

 

Growths

Another physical symptom associated with FAP syndrome is the development of osteomas, or noncancerous bony growths. These growths usually occur in the jaw and skull, although they can also develop on arms or legs. Although not usually harmful, osteomas can occasionally cause pain or be unsightly.

Other physical abnormalities common to FAP patients include the following:
  • Jejunal and ileal adenomatous polyps: Adenomatous polyps can occur anywhere in the gastrointestinal tract in FAP patients. Although adenomatous polyps are always present in the colon and are very common in the duodenum, they occasionally can occur in other portions of the small intestine, such as the jejunum or ileum, and in the stomach. These growths, found in the second and third parts of the small intestine, rarely develop into cancers in FAP patients.
  • Epidermoid cysts, sebaceous cysts, lipomas, and fibromas: Epidermoid, sebaceous cysts, lipomas and fibromas develop on the skin as well as in the tissues underlying the skin. Although they can be unsightly, they usually do not pose a health risk.
  • Gastric fundic gland polyps: These stomach polyps occur in approximately 50 percent of FAP patients. They almost never become cancerous.

fap chrpetop

 

Dental Problems

FAP patients are also more likely than members of the population at large to exhibit a number of dental abnormalities, including missing or extra teeth, or teeth that fail to push up through the bone properly (also called impacted teeth).

fap chrpetop

 

 

References

Clark, S. and Phillips, R. (1996). Desmoids in familial adnomatous polyposis. British Journal of Surgery 83: 1494-1504.

Tiret, A. and Parc, C. (1999). Fundus lesions of adenomatous polyposis. Curr Opin Ophthalmol 10(3): 168-72.

Bulow, S. et al. (1995). Duodenal adenomatosis in familial adenomatous polyposis. Int J Colorectal Dis 10(1): 43-6.

 

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