| Juvenile polyposis syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 174900 |
| DiseasesDB | 7067 |
Juvenile polyposis Syndrome is a syndrome where multiple polyps appear in the gastrointestinal tract. [1] polyps refers to a growth arising from the lumen of the colon or stomach. While the majority of the polyps found in Juvenile Polyposis Syndrome are non-neoplastic they are hamartomatous, self-limiting and benign.
The polyps can be solitary or multiple. There is no set number of polyps that yield a diagnosis. Some experts suggest 5 juvenile polyps, others say 10 or more or even 1 plus a family history.
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Age of onset is variable. The term 'Juvenile' in the title of Juvenile Polyposis Syndrome refers to the histological type of the polyps rather than age of onset.
Affected individuals may present with rectal bleeding, abdominal pain, diarrhoea or anemia. On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps[2].
Most juvenile polyps are benign, however, malignacy can occur. Lifetime risk of developing cancers of the gastro intestinal tract range from 9% to 50%.[3]
Juvenile Polyposis Syndrome can occur sporadically in families or be inherited in an autosomal dominant manner.
Two genes associated with Juvenile Polyposis Syndrome are BMPR1A and SMAD4 [4] Gene testing may be useful when trying to ascertain which non-symptomatic family members may be at risk of developing polyps, however having a known familial mutation would be unlikely to change the course of treatment. A known mutation may also be of use for affected individuals when they decide to start a family as it allows them reproductive choices.
While mutations in the gene PTEN were also thought to have caused Juvenile Polyposis Syndrome, it is now thought that mutations in this gene cause a similar clinical picture to Juvenile Polyposis Syndrome but are actually affected with Cowden syndrome or other phenotypes of the PTEN harmatoma tumour syndrome.
Solitary polyps has no significant risk of cancer. But multiple polyps (>5), polyposis syndrome, of the colon carry a 10% risk of developing into a cancer. This is mainly because of juvenile polyps developing adenomatous tissue.
If the patient has juvenile polyps they require yearly upper and lower endoscopies with the intention of excision and cytology.
If you fear adenomatous tissue developing than you can offer surgery, namely colectomy and ileorectal anastomosis.
The siblings of patients with juvenile polyps can be screened, starting in their teens
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  | Juvenile Polyposis Syndrome -- GeneReviews -- NCBI Bookshelf - Juvenile Polyposis Syndrome -- GeneReviews -- NCBI Bookshelf |
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