Intestinal polyposis: juvenile

[MIM 174 900, 175 050, 612 242]

Prevalence: 1/100,000 to 1/160,000. In 40 % of cases, autosomal dominant transmission of a mutation of the SMAD4 (18q21.1) or BMPR1A  gene. Predisposition to the formation of polyps in the digestive tract with increased risk of digestive or pancreatic tumor from 20 years of age (hamartomas).

In case of SMAD4 gene mutations , the polyposis is often associated with Osler-Rendu disease (see this term) with arteriovenous malformations and vascular fragility. Arterial anomalies (aneurysms) and/or patent foramen ovale associated with a septal aneurysm may be present and at the origin of paradoxical emboli.

Polyps may develop at any age with a majority of cases beginning in adolescents or young adults.

Diagnostic criteria: presence of at least 5 juvenile polyps in the colon or rectum. presence of juvenile polyps throughout the digestive tract including stomach; presence of juvenile polyps, regardless of their count, in association with a family history of juvenile intestinal polyposis.

Clinical presentations

-        generalized juvenile form affecting the upper and lower digestive tract

-        juvenile colic form

-        juvenile gastric form

-        juvenile infantile polyposis, more severe, which might be associated with larger deletions involving PTEN and BMPR1A genes on chromosome 10.


Clinical signs depend on the form of polyposis, and may include isolated rectal hemorrhage, anemia, abdominal pain, intussusception, and diarrhea. Rectal prolapse and spontaneous emission of polyps  through anus have also been described.


Anesthetic implications: 

risk of anemia, hypovolemia due to hemorrhage, repeated anesthesia (annual follow-up).


References : 

-        Viala J, Munck A.
Polypes et polyposes.
In Gastroentérologie pédiatrique, coordonnateurs F Gottrand & D Turck, Progrès en Pédiatrie, Doin 2016, p 254-65.

-        Bruceta M, De Souza L, Bonavia A, Karamchandani K.
Novel association of juvenile polyposis syndrome with atrial septal aneurysm and patent foramen ovale: a case report.
A&A Practice 2018; 10:331-4.


Updated: July 2018