- Juvenile polyposis syndrome
Name = PAGENAME
DiseasesDB = 7067
OMIM = 174900
Juvenile polyposis are a type of polyp and can present in both children and adults [http://www.genetests.org/query?dz=jps] . The
polypsare 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.
They normally present at a young age with painless
rectal bleedingwhich can be pretty concerning for the patient and parents. They can also present as a mass which has prolapsedoutside the anus.
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 geneSMAD4 on chromosome18 and PTEN on chromosome 10
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 adenomatoustissue.
If the patient has juvenile polyps they require yearly upper and lower
endoscopieswith the intention of excision and cytology.
If you fear adenomatous tissue developing than you can offer surgery, namely
colectomyand ileorectal anastomosis.
The siblings of patients with juvenile polyps can be screened, starting in their teens
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