What is juvenile polyposis coli?

Updated: Jun 06, 2020
  • Author: Jaime Shalkow, MD, FACS; Chief Editor: Cameron K Tebbi, MD  more...
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Answer

Juvenile polyposis coli

A child with 3-10 colonic polyps, any number of polyps in the GI tract outside of the colon, or one polyp and a family history of juvenile polyposis is considered to have the syndrome.

Most patients have 50-100 colorectal polyps; they may also have gastric and small intestinal polyps.

Identifying patients with this syndrome is fundamental because of the high risk for carcinoma (17%) at an early age; the mean age at diagnosis of carcinoma is 35.5 years. [11]

Close long-term surveillance is important. The amount of polyps increases the risk of chronic bleeding, which subsequently leads to iron deficiency anemia, hypoproteinemia, and failure to thrive. [12, 13]

Macroscopically, these polyps resemble the isolated juvenile polyps; however, histologically, they have more epithelium with a villous or papillary configuration. Epithelial dysplasia can occur. Adenomas can also be found in conjunction with juvenile polyps. [10] Lobular polyps have a higher propensity for a more severe dysplasia (47%) than non-lobular polyps (10%). [14]

According to the St. Mark's Polyposis Registry in London, the cumulative risk of cancer in patients with a juvenile polyposis syndrome is 68% by age 60 years. [15] Because the entity is transmitted in an autosomal dominant fashion, patients with a juvenile polyposis syndrome and their families must receive long-term follow-up. [16]

Some authors advocate prophylactic total colectomy and rectal mucosectomy with an endorectal pull-through (ERPT), [14] whereas others recommend regular screening with colonoscopy and subsequent colectomy if severe dysplasia, rapid polyp formation, or bleeding occurs. [17]

When intussusception occurs in children older than 2 years, the discovery of a specific lead point is not uncommon (22%); however, lead points are only found in 2-8% of children within the usual age range (6-18 months). [9] When a polyp is demonstrated as a lead point in a patient with intussusception, an evaluation may be indicated to identify polyposis syndromes.

Some hamartomas do not appear to have any malignant potential. However, germline mutations and somatic inactivation of STK11, SMAD4, BMPR1A, and PTEN genes in hamartomatous polyposis syndromes create an epithelial environment favorable for neoplastic transformation. [4]


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