Juvenile polyposis syndrome

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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
Juvenile Polyposis Syndrome + +
Familial Adenomatous Polyposis + + + +/– +
Peutz–Jeghers syndrome + + + + + +
  • Breast
  • Lung
  • Pancreas
  • Ovaries
  • Sertoli cells
  • Uterine
Cowden Syndrome
  • Trichilemmoma
  • Skin hamartoma
  • Hyperplastic polyp
  • Macrocephaly
  • Breast fibrosis
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

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