What Are Common Gastrointestinal Polyposes in Children?

Patient Presentation
A 5-year-old male came to gastroenterology clinic with a history of rectal bleeding and prolapse 1 month previously. He had been evaluated in a local emergency room and then transported to the local children’s hospital where he had undergone endoscopy. A single polyp of 1.5 x 2 cm in size was identified at 7 cm from the anus, with no other polyps noted up to the splenic flexure. The pathology was consistent with a solitary juvenile polyp. Within a short time after surgery he had no additional gastrointestinal bleeding and the parents had made sure that he had soft stools daily using Miralax® medication. The past medical history was negative for any family members with gastrointestinal tumors or cancer. There was heart and thyroid disease and diabetes. The pertinent physical exam revealed a slightly apprehensive male with normal growth parameters and vital signs. His abdominal and rectal examinations were normal.

The diagnosis of a solitary juvenile polyp was made. The gastroenterologist noted that this was a “good” kind of polyp to have as it usually wasn’t a sign of potential malignancy in the future. “We usually just treat these kind of polyps by surgically removing the individual ones. They certainly can return again so we monitor the patients based on their symptoms. It is controversial whether the patients should be evaluated by regular colonoscopies. I usually don’t but if there are other family members that you learn about that have other gastrointestinal diseases then I need to know about that. That could change the decision about colonoscopy or other treatment for him. Also if the scientific guidelines change in the future we will need to discuss this again. For now just treat him like a regular kid. Feed him good food but watch his stools and make sure they are soft,” he counseled.

Bloody stools or blood in the diaper is a relatively common complaint in general pediatrics. For most patients it is often a minor concern. Commonly it is a transient problem (e.g. rectal fissure caused by constipation or trauma) or often not blood (e.g. urate crystals in the diaper, food, menses, etc.). Real blood does occur with an identifiable cause such as long distance running or heavy exercise, or milk protein allergy/sensitivity that improves with a milk-restricted diet. Many more serious causes are associated with heavier or more recalcitrant bleeding, increased defecation, abdominal pain, poor eating and other potential problems such as anemia. The differential diagnosis of upper and lower gastrointestinal bleeding can be found here. The differential diagnosis of abdominal pain at different ages can be found here.

Polyps are not a very common cause of lower gastrointestinal bleeding but do occur in the pediatric age group and can occur in infants and young children. Depending on the type of polyp, they can be benign or have a lifetime risk of cancer that reaches 100%. They can also be associated with other organ system tumors as well. Therefore it is important that a gastrointestinal specialist is involved in the patient’s initial and ongoing care. Decisions about surveillance and treatment vary depending on the type of polyp and its malignant potential. Screening for family members is also affected by the type of polyp discovered.

Learning Point
Gastrointestinal polyps that occur in the pediatric age group include:

  • Lymphoid polyps
    • Elevation of the submucosal lymphoid tissue elevates the area causing non-epithelial polyps
    • Caused by infection and are non-malignant
    • Age: peak is age 4
    • Evaluation: spontaneous regression
  • Juvenile Polyps (JP)
    • Solitary juvenile polyps
      • Most common type of polyp in children
      • Due to inflammation of the mucosa
      • Cancer risk is low but can occur
      • Presentation: rectal bleeding, prolapse
      • Type: single or few polyps (N = 1 – 10)
      • Location: usually in rectum but can be found more proximal, mainly on left side of colon
      • Age: peak age is 3-5 years
      • Evaluation: routine colonoscopy is controversial as there is no family history
      • Treatment: removal of polyps but recurrence rate is high
    • Juvenile polyposis syndromes (JPS)
      • Autosomal dominant premalignant syndromes
      • Hamartomatous, multiple diffuse polyps
      • Initial and ongoing evaluation and screening depends on the subtype and patient age
      • Three subtypes:
        • Diffuse juvenile polyposis of infancy
          • Location: Affects entire GI tract
          • Age: < 6 months of age
          • Presentation: severe bleeding, enteropathy
          • Treatment: high risk of malignancy therefore surgical removal of affected area is usually performed
        • Diffuse juvenile polyposis
          • Location: Affects entire GI tract but especially stomach, distal colon and rectum
          • Age: 6 months – 5 years
          • Presentation: bleeding
          • Treatment: polyp removal and/or bowel resection
        • Juvenile polyposis coli
          • Location: Distal colon and rectum
          • Age: 5 – 15 years
          • Presentation: bleeding
          • Evaluation: long-term colonoscopy followup
          • Treatment: prophylactic colectomy, polyp removal and/or bowel resection
      • Peutz-Jegher syndrome
        • Type: Hamartomatous, multiple diffuse polyps, often benign but can be malignant
        • Location: can affect entire GI tract but mainly small intestine
        • Associated with: pigmentation spots on mouth, feet and hands, can have polyps in other locations (i.e. bronchi, bladder, ureter, gallbladder), can have other organ system tumors (i.e. cervix, ovary, testis, breast and pancreas)
        • Age: preschool and school age
        • Presentation: oral freckling (which is common but not pathognomonic), bleeding, intususception
        • Evaluation: depends on various risk factors
        • Treatment: polyp removal but additional more extensive surgery may be needed
      • Other hamartomatous syndromes
        • Cowden disease – can have other organ system tumors (i.e. thyroid, breast, endometrial tumor), dermatological lesions
    • Adenomatous polyposis syndromes
      • Multiple (100s-1000s) of polyps usually in the colon
      • Initial and ongoing evaluation and screening depends on the subtype and age – genetic testing is available for many types
      • Familial adenomatous polyposis (FAP)
        • Gardener syndrome is a form of FAP
        • Autosomal dominant with lifetime risk of cancer = 100%
        • Location: mainly colon
        • Associated with other organ system tumors (i.e. brain, thyroid, duodenal, pancreatic, liver) and osteomas and bone lesions of various types/locations and dermatological lesions
        • Presentation age: childhood and adolescence
        • Presentation: bleeding, abdominal pain, increased defecation
        • Treatment: colectomy is common because of the malignancy risk
      • Other adenomatous or increased risk of cancer syndromes
        • 10q23 Deletion
        • Constitutional mismatch repair deficiency
        • Hereditary mixed polyposis syndrome
        • Serrated polyposis syndrome
        • Turcot syndrome – associated with brain tumors

Questions for Further Discussion
1. What studies could be considered in the evaluation of lower gastrointestinal bleeding?
2. What are indications for gastroenterology or surgical evaluation of a patient with lower gastrointestinal bleeding?
3. What radiological procedures can be helpful in evaluating lower gastrointestinal bleeding?
4. What causes rectal prolapse?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Colonic Polyps and Gastrointestinal Bleeding.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Cohen S, Hyer W, Mas E, et al. Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 2019;68(3):453-462. doi:10.1097/MPG.0000000000002246.

MacFarland SP, Zelley K, Katona BW, Wilkins BJ, Brodeur GM, Mamula P. Gastrointestinal Polyposis in Pediatric Patients. J Pediatr Gastroenterol Nutr. 2019;69(3):273-280. doi:10.1097/MPG.0000000000002421.

Soyer T. Polypoid disease of colon in children. Pediatr Surg Int. 2020;36(4):447-455. doi:10.1007/s00383-020-04621-3.

Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa