How will I know if I have FAP?

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Common symptoms are:

  • blood/mucus in the stool
  • diarrhea
  • occasional crampy abdominal pain and/or weight loss

These symptoms are a warning sign indicating the need for bowel examination. Unfortunately, by the time such symptoms occur, a cancer may already have been diagnosed. This may happen when there is just one affected person in the family. Most adolescents in an affected family have NO symptoms at all, only their awareness of the family history of FAP.

Today, we know that symptoms can occur outside the bowel and these may develop years before the formation of any adenomas. An affected parent may have associated symptoms while an affected son or daughter may not. The following description is intended only as a reference.

In 1983, researchers found the earliest known sign of FAP: tiny eye freckles at the back of the retina. These eye freckles occur in up to 85 per cent of people with FAP and may be observed in infants. However, one cannot rule out the risk for FAP or the need for bowel screening if no freckles are found. Freckles cannot be seen without having an eye specialist (ophthalmologist) dilate the pupils and carefully examine the retina. Eye freckles are benign, much like a freckle on the skin.

 

Eye freckle

Eye Freckle

Some people with FAP have a tendency to produce extra tissue in the form of a harmless skin cyst on the scalp, face, arms, or legs. Such cysts are extremely rare in childhood and are strongly associated with FAP. Skin cysts may recur and can be removed, only if necessary, by a specialist to minimize scarring.

Extra tissue may appear as a harmless bony growth in the jaw and, occasionally, a dentist may detect bony growths on a panorex x-ray which gives an all-around view of the upper and lower jaw. Extra sets of tiny, incompletely formed teeth may be another feature. Bony growths may also form on the skull. This may provide another clue to FAP and the need for bowel investigation.

About 10 per cent of people with FAP may develop abnormal bands of tissue called a DESMOID, a benign lesion, most commonly within the wall or lining of the abdomen, and less commonly in the thigh, shoulder, or spine. Due to their complex nature, treatment for a desmoid requires careful evaluation for the appropriate medical or surgical care. In general, surgery is not recommended for desmoids within the lining of the abdomen. The most common method of measuring even slight variations in a desmoid is by a sophisticated x-ray called computerized axial tomography, or CAT-scan, which shows the size and shape of the desmoid, layer by layer.

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