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Juvenile Polyposis Syndrome

Juvenile-delinquent Polyp
Carlos Velez
Juvenile polyposis syndrome (JPS) is a disease that demonstrates an autosomal dominant inheritance pattern and is usually seen in children who are less than five years old of age. This disease is characterized by the growth of multiple hamartomatous polyps throughout the gastrointestinal tract, which includes the stomach, small intestine and colon. Some of the clinical findings include GI distress and anemia since hamartomas are highly vascular. Remember that this disease portends an increased risk for developing colorectal carcinoma.
6 KEY FACTS
CHARACTERISTICS
Autosomal Dominant
Domino

Juvenile polyposis syndrome demonstrates an autosomal dominant inheritance pattern, meaning that on average 50% of children of an affected parent will have the disease passed on to them.

Children < 5 Years Old
Child with Less Than (5) Hand

Juvenile polyposis syndrome typically affects children who are less than five years of age.

CLINICAL FINDINGS
Hamartomatous Polyps in Gastrointestinal Tract
Hammerhead Polyps with GI-guy

Juvenile polyposis syndrome is characterized by the growth of multiple hamartomatous polyps throughout the gastrointestinal tract including the stomach, small intestine, and large intestine. Hamartomatous polyps (aka "hamartomas") are benign masses that consist of an excess accumulation of arborizing normal tissue such as mucosal glands, smooth muscle and connective tissue.

GI Distress
GI-guy with Flare-gun

Gastrointestinal distress is a common feature in patients with JPS. This can include abdominal pain, bloating, nausea, constipation, or diarrhea.

Anemia
Anemone

Since the polyps are very friable, they may bleed easily into the lumen of the GI tract. Significant blood loss may cause clinical anemia.

CONSIDERATIONS
Increased Risk of Colorectal Carcinoma
Up-arrow-risk on Colon-hat-wearing Car-gnome

The number of polyps a patient with juvenile polyposis syndrome has during their lifetime ranges from around 5 to more than 100. The larger the number of polyps, the greater the risk of developing colorectal carcinoma. Other gastrointestinal cancers are also possible.

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