Juvenile polyposis syndrome
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Juvenile polyposis are a type of polyp and can present in both children and adults [1]. The polyps are a growth that projects into the lumen like a mushroom, arising from the tissue underneath the epithelium layer (colonocytes).
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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[edit] Presentation
They normally present at a young age with painless rectal bleeding which can be pretty concerning for the patient and parents. They can also present as a mass which has prolapsed outside the anus.
[edit] Pathophysiology
It is not clear if this condition has a genetic predisposition or if they are just sporadic. There has been some association with familial juvenile polyposis and the gene SMAD4 on chromosome 18 and PTEN on chromosome 10
[edit] Prognosis
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.
[edit] Monitoring
If the patient has juvenile polyps they require yearly upper and lower endoscopies with the intention of excision and cytology.
[edit] Treatment
If you fear adenomatous tissue developing than you can offer surgery, namely colectomy and ileorectal anastomosis.
[edit] Screening
The siblings of patients with juvenile polyps can be screened, starting in their teens
