Polyposis Syndromes

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.

What tests are used to diagnose polyposis syndromes?

Doctors take a blood sample to help identify which type of polyposis a patient has, based on genetic markers for the disease. However, mutations are not always detectable. For most of these disorders, the presence of one mutation is enough to make the diagnosis.

Genetic testing is available for JPS (genetic markers SMAD4 and BMPR1A), PJS (genetic marker STK11), and FAP (genetic markers APC, MUTYH).  

To closely examine a patient's polyps, a doctor may use different imaging methods including endoscopy, colonoscopy and enteroscopy. These tools help determine the number, size, distribution and microscopic characteristics of the polyps to help guide a patient's treatment decisions.

Why choose Children's Hospital Colorado for polyposis syndromes testing?   

Children's Colorado offers comprehensive evaluation in an environment focused only on kids. For our patients undergoing diagnostic evaluation or interventional procedures, the team is pediatric-trained and the equipment is sized especially for the child. Child-life specialists help prepare children for surgical procedures, reducing their anxiety. The décor and activities in the waiting and exam rooms are designed to appeal to children and distract them. The laboratory provides trained technicians to draw blood using the smallest needles and volume that are appropriate.

What to expect from polyposis syndromes testing  

Children's Colorado focuses on the patient's experience. From the clinic rooms to the operating and recovery rooms, the environment is kid-friendly. Before procedures, a play therapist is available to meet with families and show pictures to explain the process and reassure children. Procedures are usually done under anesthesia. When possible, blood draws are done under the same anesthesia. Recovery rooms have child friendly activities and foods and drinks. 

How do doctors at Children's Colorado make a diagnosis?

Juvenile polyposis syndrome 
JPS is diagnosed through a combination of genetic testing for the SMAD4 and BMPR1A mutations and polyp identification if no known genetic mutation is found. Patients with JPS have more than five juvenile polyps in their colon or rectum, juvenile polyps in other parts of the GI tract, or at least one juvenile polyp plus an affected family member.  

Peutz-Jegher syndrome 
PJS usually have a characteristic polyp and typical dark pigmentation patterns usually around the mouth and lips. Identifying a mutation in the STK11 gene is also used to make a diagnosis.

Familial adenomatous polyposis 
Patients with multiple adenomas, a type of non-cancerous tumor, in the colon are usually diagnosed with FAP. Doctors may perform genetic testing to find mutations in the APC gene for the classic or attenuated form, or in the MUTYH gene for the autosomal recessive form of the disease.

How are polyposis syndromes treated?

Inherited polyposis syndromes are treated by pediatric gastroenterologists who perform endoscopy, colonoscopy and enteroscopy to identify and remove polyps. During these procedures our patients are sedated or under general anesthesia to make them as comfortable as possible.

Endoscopy:
A procedure used to examine a patient's gastrointestinal tract and small bowel by passing a camera through a patient's mouth and stomach.

Colonoscopy:
A narrow, flexible camera is passed through a patient's anus to examine the bowel and lower portion of the small intestines. 

Enteroscopy:
A long flexible tube with a balloon attached is used to advance further into the intestinal tract than conventional endoscopes or colonoscopes.

A surveillance program is then put in place to help patients and doctors monitor the growth or development of any new polyps. Genetic counseling, family screening and diagnosis and treatment of any cancers are also important. Medications are not very effective in preventing polyp formation at this time.

Why choose Children's Colorado for your child's polyposis syndrome?

Children's Colorado provides child-specific state-of-the-art care for children with inherited polyposis syndromes, from their diagnosis and treatments to follow up care and specialized preventative medicine. Here, we use the latest technologies to make diagnosis and treatment as painless as possible. Our doctors provide Advanced Interventional Pediatric Endoscopy using techniques specific to each patient including:

• Balloon enteroscopy 
• During video capsule endoscopy patients swallow a camera that takes a video as it passes through the gastrointestinal tract 
• Polypectomy snare techniques remove polyps by grabbing them from the bowel wall 
• APC polyp ablation removes polyps using energy while keeping the bowel muscles safe  

Our Radiology Department provides the latest in kid-friendly imaging technology while minimizing radiation exposure including MR enterography. The Hereditary Cancer Risk Assessment Clinic at Children's Colorado also provides family screening and genetic counseling for our inherited polyposis syndrome patients.

• Basic information about polyposis syndromes from the National Institute of Health
• Hereditary Cancer Risk Assessment Clinic 
• Gene tests information from the National Institute of Health
• The Genetic Alliance support group
• The National Library of Medicine's MedlinePlus website