Juvenile polyposis syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Juvenile polyposis (JPS) are a type of polyp and can present in both children and adults [2]. 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.
Presentation
They normally present at a young age with painful 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.
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
Differential diagnosis
JPS must be differentiated from other diseases causing multiple polyps such as:
| Diseases | History and Symptoms | Physical Examination | Laboratory Findings | Other Findings | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Abdominal Pain | Rectal Bleeding | Fatigue | Abdominal Tenderness | Hyperpigmentation | Anemia | Gene(s) | Gastrointestinal Tumors | Cancers | ||
| Familial Adenomatous Polyposis | + | + | + | +/– | – | + |
|
|||
| Peutz–Jeghers syndrome | + | + | + | + | + | + |
|
|
||
| Juvenile Polyposis Syndrome | + | + | – | – | – |
|
||||
| Cowden Syndrome | – | – | – | – | – |
| ||||
| Carney Syndrome | – | – | – | – | – | |||||
| Hereditary Non–Polyposis Colon Cancer | – | + | + | +/– | – | + | ||||
Prognosis
solitary polyps has no significant risk of cancer. But multiple polyps, polyposis syndrome, of the colon carry a 10% risk of developing into a cancer. This is mainly because of juvenile polyps developing adenomatous tissue.
Monitoring
If the patient has juvenile polyps they require yearly upper and lower endoscopies with the intention of excision and cytology.
Treatment
If you fear adenomatous tissue developing than you can offer surgery, namely colectomy and ileorectal anastomosis.
Screening
The siblings of patients with juvenile polyps can be screened, starting in their teens