Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Download our mobile app today - it's free!
Arvind Srinath, MD, joins us for the final of 3 podcasts on gastrointestinal issues. Today, he discusses celiac disease in Down syndrome.
Dr. Vellody: Welcome back for another podcast from the Down Syndrome Center of Western Pennsylvania. As always, I am your host Dr. Kishore Vellody. With us for another podcast on gastrointestinal issues is Dr. Arvind Srinath. Arvind, thanks for joining us once again!
Dr. Srinath: Thank you for having me.
Dr. Vellody: Well, we’re glad that you’ve been so willing to share your expertise with us on the podcast. Today we’re going to be talking about a condition that happens with some frequency in people with Down syndrome called celiac disease which is also known as celiac sprue. Arvind, could you please tell us what this condition is?
Dr. Srinath: Absolutely. So, celiac disease is a condition where the body’s immune system is generally dysfunctional. It can mainly affect the GI tract but can also affect areas outside of the GI tract including the joints and the skin. The immune system dysfunction is triggered by something called gluten in their diet. Gluten is a protein complex that’s found in your typical foods of wheat, rye, and barley. It’s symptoms are vast and sometimes non-specific. Notably from a GI standpoint, they can include diarrhea, bloating, abdominal pain, poor growth, weight loss, and food refusal. From a non-GI standpoint, children can have anemia, fatigue, skin rashes, or even joint problems.
Dr. Vellody: Thanks, that’s really helpful. People often think that celiac disease affects only the gastrointestinal tract so it’s always good to keep in mind that it can really affect any number of organ systems in the body. Okay, I remember learning in medical school that celiac disease was a pretty rare condition, but nowadays we know that’s not the case. How common is it now felt to be?
Dr. Srinath: So, in the general population, celiac disease can affect up to 1% of the population versus in patients with Down syndrome the rates are up to 5%. So a five fold increased risk for celiac disease in patients who have Down syndrome.
Dr. Vellody: Thanks. I know that some studies even quote up to a 15% risk of celiac disease in children with Down syndrome. Can you tell our listeners how celiac disease is diagnosed?
Dr. Srinath: There are two parts to the diagnosis of celiac disease – screening and confirmation. The screening portion is done with blood tests. These blood tests are really, really good but not perfect. They might be falsely abnormal or even falsely normal for reasons other than celiac disease itself including gastrointestinal infection, other causes of gastrointestinal irritation, celiac disease that may not have yet developed, liver problems, diabetes, joint problems, or just in general. Thus, one would not want to change their lifestyle completely based on these tests that aren’t perfect. Thus, we have to confirm a diagnosis with something called a endoscopy with taking a little piece of the small intestinal lining (called a biopsy) and looking at that piece of the lining under a microscope to see if it has signs suggestive of celiac disease. That’s the gold standard or confirmatory way to diagnose celiac disease.
Dr. Vellody: So, Arvind, even though it is the gold standard, I know that we hear often from families about their fears and concerns about their child undergoing an endoscopy. Could you please give us some more information about what exactly getting an endoscopy really means?
Dr. Srinath: Thanks for clarifying. I want to preface this by saying that all of the endoscopies, or almost all of the endoscopies, done in our pediatric GI offices are under general anesthesia meaning your child is asleep for the whole time. They are not going to feel or remember anything of the procedure itself. The procedure itself takes about 15 minutes. It involves me taking a scope, probably the diameter of my pointer finger, which has a light and a camera at the end and a little piece for me to stick a little forceps through to take pieces of the lining. What I do is I go in and take pictures of the food pipe, the stomach, and the first part of the small intestine and take pieces of those linings which are no larger than about a quarter or a half of the size of a grain of rice. Thus, these pose extremely minimal risks when taking [them]. After the procedure itself, what we have immediately are the pictures to look at, which do help us distinguish whether or not everything is normal or not. What helps us even more is after our pathologists (doctors that look at those biopsies under the microscope) identify whether or not there are abnormal findings there.
Dr. Vellody: Thanks for taking us through what all goes on during an endoscopy. However, even after hearing about the procedure, I know that many families still hesitate to move forward with the endoscopy. The thought process is that if the screening blood tests are abnormal, then why not just diagnose the child with celiac disease and start the gluten free diet? That way, you can skip the endoscopy and you just have them on a different diet then they were on before. After all, the blood tests for celiac disease are pretty good, right?
Dr. Srinath: I will say those screening tests are good, but they’re not perfect. They do miss a certain percent of people that, for example, might have abnormal tests that would suggest celiac disease that might not have celiac disease. In fact, they might have abnormal tests for other reasons that need to be examined. For that reason, since the treatment of celiac disease is a major lifestyle change in the setting of changing the diet, I do think it is worthwhile to confirm an abnormal screening test with our gold standard which is the scope. Hence, if a test is abnormal, I would not advocate just starting the gluten free diet because there is a chance that your son or daughter might not have celiac disease.
Dr. Vellody: Ok, so we know that starting a gluten free diet without confirming the diagnosis of celiac disease with an endoscopy is not recommended. But let me change the scenario a little bit. There are several websites and alternative medicine and alternative nutrition people who claim that a gluten free diet can treat any number of different conditions from recurrent infections to something like autism. What are your opinions and what does the data say about these kinds of claims?
Dr. Srinath: So I think that’s an excellent point to bring up. Many people report gluten sensitivity and have a symptomatic response to a gluten free diet in the absence of laboratory or blood tests or intestinal biopsy evidence of celiac disease. Because of the recent surge in media attention to gluten and potential adverse effects on health, many folks have switched to a gluten free diet in the absence of medical advice. Keep in mind that a reduction in symptoms from a gastrointestinal standpoint and from a non-gastrointestinal standpoint in terms of behavior, allergies, etc. are not diagnostic of celiac disease. They could be due to a multitude of reasons, one of which could be the placebo effect. Once you try something new, given a general belief that it will work, that can lead to its effect despite it’s non-utility. This might be some of the reasoning behind gluten-free diets being implicated in curing several non-gastrointestinal conditions for which there is poor concrete literature evidence behind.
Dr. Vellody: Thanks, Arvind, for explaining that to us because I know it’s something that families read about on the internet. Ok, so now let’s go back to a patient who has biopsy proven celiac disease and goes onto the gluten-free diet as a treatment. Who do they do in terms of follow-up and how often do they need to be seen?
Dr. Srinath: After someone has been diagnosed with celiac disease, they still should be followed by their pediatric gastroenterologist. After diagnosis, I usually like to see them within 6 months and then within a year to make sure they’re continuing to be adherent to the gluten-free diet as evidenced by normalization of labs. One might even consider normalization of a scope if symptoms are still present. After that, I would suggest annual follow-up, basically to review dietary adherence, blood test monitoring for persistence or recurrence of disease, and monitoring for associated sequelae such as osteoporosis.
Dr. Vellody: That’s a good place for us to transition to our final question for this podcast. Can you give us an idea of what the consequences are for untreated celiac disease in the general pediatric population? A strict gluten-free diet can be difficult to adhere to, so why should someone with celiac disease keep themselves on a gluten-free diet?
Dr. Srinath: So, I think that’s an excellent point to touch upon in this setting as to why adhere to a gluten-free diet if one has been diagnosed with celiac disease. It’s mainly preventative of complications. There are complications from a GI standpoint of chronic malnutrition from poor absorption and that can be due to poor absorption of anything dietary itself from the intestinal irritation. You can get certain vitamin deficiencies. From outside the GI standpoint, the complications basically range by system including neurologic (or brain), psychologic, problems with the blood counts, joints, skin, bones (in terms of osteoporosis), and there’s a small but significant increased risk for both intestinal and non-intestinal cancers.
Dr. Vellody: That’s a long list to keep track of for our families but an important one to keep in mind. One thing that I want our listeners to know is that the 2011 update of the Down syndrome Healthcare Guidelines from the AAP no longer call for routine screening for celiac disease in asymptomatic patients. We used to screen everyone with Down syndrome at around 2 years old, but, interestingly enough, people with Down syndrome don’t seem to have the same long term risks of untreated celiac disease as do people without Down syndrome. There seems to be something that makes celiac disease more likely on the 21st chromosome but decreases their chances of long term consequences at the same time.
Well, Arvind, thanks again for joining us for all of these podcasts on GI issues. We really appreciate it! If families have concerns or questions about any of these issues we’ve covered, can we refer them your way for further discussions and evaluations?
Dr. Srinath: Absolutely. Thank you again for this opportunity. I’d be more than happy to see patients in my clinic and more than happy to entertain any questions too.
Dr. Vellody: That sounds great, we appreciate you and your colleagues help in managing our patients. Ok, well, to our listeners, we’ll be seeing you again soon for future podcasts. We’ve received several requests for different podcast topics and are actively seeking experts in the field to join us to help answer your questions. We’ll talk to you again soon. Bye, byThat sounds great, we appreciate you and your colleagues help in managing our patients. Ok, well, to our listeners, we’ll be seeing you again soon for future podcasts. We’ve received several requests for different podcast topics and are actively seeking experts in the field to join us to help answer your questions. We’ll talk to you again soon. Bye, bye!
View other podcast topics related to down syndrome.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With myCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.