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.
Juvenile polyposis syndrome typically affects children who are less than five years of age.
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.
Gastrointestinal distress is a common feature in patients with JPS. This can include abdominal pain, bloating, nausea, constipation, or diarrhea.
Since the polyps are very friable, they may bleed easily into the lumen of the GI tract. Significant blood loss may cause clinical anemia.
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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