Pediatric Gastroenterology Case

A 13-year-old girl presents to your clinic with new-onset hematochezia for 1 week.
Pediatric Gastroenterology Case

A 13-year-old girl presents to your clinic with new-onset hematochezia for 1 week. She is currently passing two soft, formed stools per day, each with blood mixed throughout the stool substance. Her history is otherwise unremarkable. Her family history is remarkable for fatal colon cancer in her paternal grandfather at 38 years, colon cancer in her father at age 26 years (treated with chemotherapy and colectomy), and colon cancer in her 19-year-old brother, who is currently undergoing chemotherapy after colectomy. Her exam is normal, without evidence of tachycardia or other signs of significant anemia.

You recommend colonoscopy to better define the source of bleeding and find the following endoscopically:

A. A single mass in the rectum that has polypoid features.
B. Gardens of small, sessile polyps throughout the colon.
C. Nothing in the colon; the bleeding must be more proximal.
D. Endoscopic features of chronic colitis.
The correct answer is “B.” The most likely etiology is familial adenomatous polyposis (FAP) due to the significant colon cancer affecting family members at very young ages. FAP is an autosomal dominant condition that causes hundreds to thousands of colon polyps and eventual colon cancer if untreated. It is due to a mutation in a tumor suppressor gene (APC, adenomatous polyposis coli).

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