Juvenile polyposis syndrome

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Juvenile polyposis syndrome
Other namesRetention polyps
SMAD4

Juvenile polyposis syndrome is an

adenocarcinoma
.

Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either:

  1. More than five juvenile polyps in the colon or rectum; or
  2. Juvenile polyps throughout the gastrointestinal tract; or
  3. Any number of juvenile polyps in a person with a family history of juvenile polyposis.[2]

Signs and symptoms

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 the age of onset.

Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia. Diagnosis is typically by way of

cytology.[3] On colonoscopy or sigmoidoscopy polyps that vary in shape or size are present. The polyps can be sessile or pedunculated hamartomatous polyps.[1]

Genetics

Juvenile polyposis syndrome can occur sporadically in families or be inherited in an autosomal dominant manner.[citation needed]

Two

SMAD4.[1] 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.[citation needed
]

While

PTEN hamartoma tumor syndrome.[4]

Screening

People with juvenile polyps may require yearly upper and lower

endoscopies with polyp excision and cytology. Their siblings may also need to be screened regularly.[5]

Treatment

Malignant transformation of polyps requires surgical colectomy.[5]

Prognosis

Most juvenile polyps are benign; however, malignancy can occur. The cumulative lifetime risk of colorectal cancer is 39% in patients with juvenile polyposis syndrome.[6]

References

  1. ^ a b c GeneReviews NBK1469
  2. ISBN 978-0-7817-7942-5
    .
  3. PMID 36619487
    .
  4. ISBN 0-7216-2921-0
    .
  5. ^ a b "Familial Juvenile Polyposis". The Lecturio Medical Concept Library. Retrieved 22 July 2021.
  6. PMID 22171123
    .

Further reading

External links
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