Polyposis Syndromes: Signs and Symptoms

What are the signs and symptoms of polyposis syndromes?

Common signs and symptoms of polyposis syndromes include bleeding from the rectum, a polyp that protrudes from the rectum, anemia or low red blood cell levels, and persistent blood in the stool that may be visible or hidden. Having a family member who is also affected is another sign that a child may have a polyposis syndrome. Some particular symptoms to the type of syndrome include:

Juvenile polyposis syndrome

  • Diarrhea
  • Protein losing enteropathy (the loss of protein in the digestive tract or to absorb proteins)
  • Telangiectasias or small dilated blood vessels on lips, tongue, mouth and fingers
  • Abnormal connections between veins and arteries called arteriovenous malformations in the lungs, brain, and other sites

Peutz-Jegher syndrome

  • Freckling (dark spots) on the lips, in or around the mouth, nostrils, eyes, fingers and toes and even the anus. Spots appear in childhood and often fade after adolescence.
  • Polyps in the stomach, small intestine, and colon that may last over a child’s lifetime. Polyps may be large and cause chronic bleeding, abdominal pain and recurrent intestinal obstruction, which may be life threatening and require surgery. 
  • High lifetime risk for developing cancers of the GI tract, pancreas, testicles, cervix, ovary, and breast  

Familial adenomatous polyposis 

  • Adenomatous polyps form in the colon.  
  • Polyp formation may begin in childhood, and continue over time to form hundreds or thousands of polyps in the colon.  
  • Colon cancer develops at an average of 39 years.
  • Desmoid tumors, fibrous tissue bundles that may be triggered by surgery and often recur after removal.   
  • Cysts and other benign growths in soft tissues and bones (also called Gardner syndrome), delayed eruption of teeth, thyroid tumors and hepatoblastoma (a type of liver cancer)
  • An abnormal spot of pigment in the eye, called CHRPE for congenital hypertrophy of retinal pigment epithelium
  • Increased risk for thyroid cancer, pancreatic cancer, stomach polyps and polyps in the duodenum, the first portion of the small bowel