Juvenile Polyposis Syndromes with Dr. Joseph Palermo
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- Juvenile polyposis syndrome affects 1 in 100,000 births; SMAD4 mutations (20%) cause increased mucosal inflammation mimicking IBD.
- 95% of single polyps in children are juvenile polyps; screening indicated with 3-5+ polyps or multiple polyps across scopes.
- First colonoscopy at symptom onset; formal screening starts at age 15 with upper endoscopy, colonoscopy, and baseline capsule endoscopy.
- Cancer rare until adulthood; surgical resection only if symptomatic. Annual endoscopy if polyps found, every 2-3 years if clear.
- Earlier childhood presentation correlates with higher polyp burden and increased anemia risk from polyp size and number.
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Check out this week's stay current short. Now switching gears to the Hereditary Hemorrhagic Polyposis syndromes. The most common is juvenile polyposis syndrome, which affects 1 in 100,000 live births and it's related to yet another genetic mutation. This time in SMAD4. There are about 20% of patients who have a SMAD4 mutation. Um also 20% have BMPR1A. But the SMAD4 mutation I'll talk about a little bit later because that's also associated with um hereditary uh hemorrhagic teleangiectasia. We've been seeing this in a lot of our patients with SMAD4 mutations is that they have a lot more increased mucosal inflammation. Um oftentimes when we scope these kids that have JPS and HHT, it'll actually look like IBD. Um and so uh and it's thought that this is uh happening because there's change in the regulation of TGF beta based on a SMAD4 mutation. That's Dr. Joseph Polairmo. He's a pediatric gastroenterologist and a member of the multidisciplinary polyposis team at Cincinnati Children's Hospital. Once we send a biopsy of suspected juvenile polyposis, what is the pathologist looking for? If you look at it under a microscope again, what you see is that you see these large uh dilated cystic dilation of their glands lined by cuboidal epithelium. There's lots of uh uh irritation inflammation um hemorrhage uh in these polyps, but there's no large blood vessels running here through the through the stalk. About 95% of single polyps in children are juvenile polyps and usually they're on the left side. Screening is indicated when there's more than three to five polyps or multiple polyps over multiple scopes. It's also known that if you with JPS, if you have an earlier presentation and if it's a your childhood, it's more severe, meaning your polyp burden is higher. Um you're more likely to have problems with uh anemia uh just because of the number and size of the polyps that develop. Officially, screening starts at 15 years old, but the first colonoscopy is recommended at the first presentation of symptoms. And so again we do upper endoscopy colonoscopy and in this case we also do a capsule endoscopy at least once um as a baseline um early on to see if there are any um uh polyps in the small intestine. Mainly because, you know, with most kids are going to have at some point in time in their life belly pain. And knowing what they already have in there is going to be helpful because if they have polyps in there that are um even if they're small, if we know they're already in there and growing and they start having belly pain, um we, you know, those are the kids that we would probably um be more um aggressive with with imaging as well as um doing other things like uh pushoscopy to try and get to the polyps. Cancer isn't usually detected until adulthood and therefore surgical resection is only indicated if symptomatic, not for prophylaxis. Otherwise, endoscopy is the mainstay of management both for screening and palletctomy. Our follow-up uh for GI polyps again is the annual screenings. Um if you identify a polyp and then if you there's no polyps on the initial screening, you can space it out to every two to three years. Check out the full episode on YouTube, the Stay Current app or Soundcloud. Find the links below.