[00:00:00] Host: Welcome to Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. I’m Vanessa Weisbrod, the Education Director of the Celiac Program at Boston [00:00:15] Children’s Hospital, and each month on the podcast, we will invite leading experts to dive into a condition related to Celiac. And look at how it impacts a patient family. The latest research and offers suggestions for health providers to manage these [00:00:30] complex cases. Every episode of the Raising Celiac podcast is accredited by the Boston Children’s Hospital Continuing Education Department for 0.5 AMA PRA category one credits for physicians. 0.5 contact hours for nurses. 0.5 ACE CCE Continuing education credits for social workers and 0.5 CEUs for registered dieticians claim your credits for listening to today’s episode, please visit [00:01:00] dme.hospital.org/raising celiac. Let’s get started with this month’s Raising Celiac story.  

[00:01:09] Guest: Peter was a pretty normal toddler. He giggled all the time, played joyfully with his family and [00:01:15] friends, and loved every food his mom put in front of him, especially avocados, broccoli, and snicker doodle cookies. His mom lovingly referred to him as her chubby little munch. Until just before his third birthday when he seemed to thin out all around but not get [00:01:30] any taller. His preschool class photo came in and he was a full head shorter than the other kids in the class. Despite being one of the oldest, something had to be up right. 

[00:01:41] Host: Celiac disease is a chronic genetic autoimmune condition that can [00:01:45] affect any system of the body. The only treatment is a lifelong gluten-free diet. In people with celiac disease, gluten damages the lining of the intestines. This can prevent them from absorbing important nutrients from food and cause a variety of symptoms like [00:02:00] abdominal pain, nausea, diarrhea, vomiting, fatigue, weight loss, mouth ulcers, and growth issues to name a few. 

[00:02:08] Guest: Peter’s parents took him to the pediatrician. One of the first tests they ran was for celiac disease. It was [00:02:15] positive. Peter’s parents were both surprised and not surprised at the same. They were aware of this condition because Peter’s grandmother also had celiac disease. Though her main symptoms were diarrhea and vomiting. She never had issues growing. How could [00:02:30] Peter have the same disease but not obviously react when eating the foods that made Grandma so physically ill? 

[00:02:35] Host: Celiac disease can affect patients in very different. Some might have very obvious physical symptoms, while others may be more subtle or even none at all, [00:02:45] regardless of the symptoms, the reaction in the body is the same. When food enters the stomach, it’s broken down into tiny digestible particles, which then travel through the small intestine. The small intestine is lined with vii, tiny finger-like projections that [00:03:00] absorb nutrients from the food passing. in celiac disease, gluten damages the intestines and causes the villa to break down, leaving a smooth lining that can no longer absorb nutrient. It’s. 

[00:03:11] Guest: As Peter’s parents dove into researching everything about [00:03:15] celiac disease, they quickly learned that the rest of the family needed to be tested and that symptoms could impact any system of the body. Peter’s dad had spent his entire life with crippling neuropathy in his hands and feet. He also tested positive for celiac [00:03:30] disease. Then a few months later, his aunt tested positive after seeing a dermatologist for a blistery rash on her elbows. Oddly enough, Peter’s cousin also tested positive for celiac disease but had no distinguishable symptoms and was only tested [00:03:45] because he also had type one diabetes. Were all of these differing symptoms really related to eating gluten and as Celiac really so common that several family members all have it. 

[00:03:55] Host: Not to give it all away, but the answer is yes. All of these different [00:04:00] symptoms and many more can be related to gluten. As Peter’s family quickly learned, celiac disease is far from uncommon. An estimated 1% of people in North America are affected by this autoimmune disease. Typically more girls than boys [00:04:15] and many are undiagnosed, and Celiac is also closely related to many other chronic diseases including type one diabetes and thyroid disease. So this season on Raising Celiac, we’re going to explore why we’ll talk to [00:04:30] experts across the United States and around the world to discuss why celiac disease is so complicated and how better understanding it may be the key to learning more about other autoimmune conditions. So let’s start raising Celiac.  

[00:04:43] Today we talk about the history [00:04:45] of celiac disease with Dr. Dosha Weir, the clinical director of the Celiac disease Program at Boston Children’s Hospital. Dr. Weir first became interested in celiac disease during her medical training and is now a board-certified pediatric gastroenterologist with [00:05:00] expertise in celiac disease in children. Dr. Weir’s recent research has focused on non-responsive celiac disease in children, and she is a champion for supporting food insecure families with celiac disease. Dr. Weir sits on the executive committee of the Harvard Medical School [00:05:15] Celiac Research Program and the Board of the Celiac Kids Connection. 

[00:05:18] Welcome Dr. Weir to Raising Celiac. 

[00:05:21] Thank you so much for having me. It’s really a pleasure to be here. 

[00:05:25] So before we talk more about Peter’s family story, I wanna talk about the history of [00:05:30] celiac disease. When and how was it discovered? 

[00:05:33] Celiac disease is not a new thing, even though many of us have only just started to hear about it more regularly. It actually was first described by a physician back in the Roman [00:05:45] Times, around a hundred to 200 a d and he described, um, You know, he described patients who had problems with digestion and absorption, and actually called it celiac affection at that point in time. 

[00:05:58] Celiac is [00:06:00] actually from the Greek word belly, which makes reference to one of the classical symptoms that we sometimes see with celiac disease of, of a vi, a big, distended belly. So, it really does go way back. Um, and then it was mentioned in the medical [00:06:15] literature as far back as the 16 hundreds and through the 18 hundreds and the 19 early 19 hundreds European, British, and American physicians identified and discussed celiac disease. 

[00:06:27] And trialed various dietary treatments without [00:06:30] the understanding that gluten was triggering celiac disease, which is really interesting to look back at how that piece was fit into the, to understand celiac disease. Um, in 1920s there was an American physician named Dr. [00:06:45] Haas, and he noticed, um, in, in Puerto Rico that in the city where people ate bread, there was more suffering of celiac. While the farmers who lived in the country and [00:07:00] mostly ate bananas, rarely suffered from celiac disease. And he made that observation and decided that the key to treating celiac disease was bananas. He did not pick up that the gluten, perhaps it was the absence of gluten. That was really, was really the key [00:07:15] there. Um, and he, he really developed a banana-based diet that did have some success in treating kids. Celiac disease back in the early 19 hundreds. Um, so it’s just kind of interesting because he really was prescribing the diet without realizing [00:07:30] exactly what he was doing. 

[00:07:31] That’s so interesting. 

[00:07:33] Yeah, I thought it was really interesting. And they call people who had celiac disease in that era and survived, uh, banana babies actually, It wasn’t until after World War II when the connection was made between [00:07:45] celiac disease and the trigger of gluten, of ingested gluten, and there was a Dutch pediatrician whose name was William Carl Dickey, who observed that during the war when there was no bread available, that Dutch children with celiac [00:08:00] disease got better and that they were not dying. And he really noticed that there was this big improvement in kids with celiac disease and then when the bread returned, they started getting sick again. And that really, that really helped him make that connection which was obviously a huge breakthrough in the [00:08:15] treatment of celiac disease 

[00:08:16] and that advancement was in the 1950s when we started being able to do small bowel biopsies and that really paved the way. For us to be able to confirm celiac disease by the characteristic inflammation [00:08:30] and damage that we see when someone with celiac disease is consuming gluten. And then the last piece was, um, the advent of serologic tests. So ttg IGA is a blood test that we have that we really rely on a lot to [00:08:45] help us figure out who has celiac disease. And that was really only recognized as a marker of celiac disease, um, in 1997. So that was another really big step that helped us understand celiac disease and recognize celiac disease [00:09:00] much better than we had done previous. 

[00:09:02] it’s been amazing to see over the last, you know, 20 years how much we’ve learned and how far our community has come. 

[00:09:09] It really is amazing, isn’t it?  

[00:09:11] Absolutely. So as we heard from Peter’s family, [00:09:15] celiac disease affects people in many ways if there are so many symptoms. How can doctors know when the right time is to screen for celiac? Should they always just be testing no matter what the ailment? 

[00:09:25] It’s a really good question because you’re right. The range of how people show up with celiac [00:09:30] disease is so broad. There are so many different ways people can show us that they have celiac disease. Um, and, and what’s really tricky about it is some of those symptoms are really common symptoms of, of being human, you know, and they’re not always linked to [00:09:45] celiac disease. And so, um, It can be really tricky to figure out who to screen. There’s really two groups that we think about who need screening. One are people who have a variety of symptoms, you know, including gastrointestinal symptoms, growth issues, and, and many, [00:10:00] many other symptoms as we’ve sort of outlined in Peter’s case. I think we should have a really low threshold to sending blood work to look for celiac disease. So There’s another group though, that we also need to think about, and that’s kids. Kids that are if you have a first degree family member with celiac disease, [00:10:15] for example, or you have another disorder like an autoimmune disease such as thyroid disease or type one diabetes, your risk of having celiac disease is higher than the average population. And so we should be thinking as a medical community about [00:10:30] actively screening those patients as well. 

[00:10:32] Can you tell our listeners what some of the more common symptoms of celiac disease are? 

[00:10:38] some of the common symptoms that we see in celiac disease are gastrointestinal symptoms like abdominal [00:10:45] pain, nausea. Some people will have changes in stool and it doesn’t just have to be diarrhea. It can also be constipation. Um, another big way that we see children presenting with celiac disease is not growing well, and that might be that their linear growth, their [00:11:00] height is stunted, and that they have something that we call short. Or it might be that they are not gaining weight well or are actually losing weight. Those symptoms in kids are red flags, that there is something going on in the body. And it turns out that celiac [00:11:15] disease is, is a very major cause of those symptoms in kids. Um, but there’s other non GI symptoms that are relatively common. Iron deficiency anemia is another big one that can be a sign of celiac disease. Um, and uh, fatigue [00:11:30] is another one that I actually see quite a. 

[00:11:33] So is it really possible to have no symptoms at all, but still test positive for Celia? 

[00:11:39] It is. So we keep track of the diagnosis of celiac disease in our program [00:11:45] and we’ve gone, we’ve been doing that since, you know, 2001. And when we look at the numbers of kids that we’ve diagnosed, we see that a a little bit under 10% of patients, uh, don’t have identifiable symptoms before the diagnosis. Um, which is [00:12:00] really surprising to families when they find themselves, you know, thinking about this diagnosis and a kid that they really were not worried about prior to, prior to the blood test that was sent. 

[00:12:09] But one of the things that I think is really interesting is that I, I. Over the [00:12:15] years have become a little more reluctant to calling that asymptomatic celiac disease because I’ve had so many experiences where kids, we’ve identified that they have celiac disease, they go on a gluten-free diet, they come back for follow up, and there is something that’s better that they hadn’t [00:12:30] identified beforehand is off. Often it’s, Oh, my kid has so much more energy. Or sometimes kids will verbal. , I, I did have abdominal pain and now it’s gone. I think kids are so resilient that I think sometimes they don’t realize that they have a symptom until it’s [00:12:45] not there. Or they don’t realize that a symptom might not be normal that everybody else feels until it’s not there. So I, I, I hesitate a little bit to use asymptomatic, um, the asymptomatic label on patients. I can tell you that there are absolutely [00:13:00] people who do not have symptoms and do not feel better on a gluten-free diet. And it, and it can be a hard thing for families and patients to wrap their heads around. 

[00:13:07] So let’s say you have a patient who is seemingly asymptomatic or you know, doesn’t have any obvious noticeable symptoms to themselves, [00:13:15] um, and they go in the gluten-free diet and they’re not feeling better, why should they stick to that gluten-free diet? 

[00:13:20] There are a lot of good reasons to treat celiac disease. Even if you don’t have symptoms. Obviously, if you have symptoms, that’s a really big motivating factor to everybody. Um, but if [00:13:30] you don’t have symptoms, you still have the inflammation and damage in your intestine and, and long term inflammation in your intestinal tract is not a healthy thing. 

[00:13:38] It can predispose you to nutritional deficiencies, which can have health. Including bone density [00:13:45] problems and osteopenia or osteoporosis, which is like a, um, um, a lack of bone density in weak bones. Um, he can also lead to things like infertility and there are descriptions in adults with untreated celiac disease who have certain [00:14:00] malignancies of the small intestine, um, which, uh, are associated with untreated celiac disease. 

[00:14:05] so the stakes are really high. The other piece that is particularly relevant to the, like children and the pediatric population is growth. You [00:14:15] know, kids may not grow to their full potential and when they hit their growth spurt, they may not grow, as tall as they should be, and they won’t realize it until it’s too late. 

[00:14:24] So that’s another big reason. 

[00:14:26] All very good reasons 

[00:14:28] We think so[00:14:30]  

[00:14:31] Ad Break: The Global Autoimmune Institute works to empower solutions in the diagnosis and treatment of autoimmune diseases. Through research, education, and awareness, while supporting multidisciplinary approaches to health,[00:14:45] we are thrilled to support the production of this educational. 

[00:14:50] welcome back. So, Dr. Weir, we hear all the time that it can take years for a patient to be correctly diagnosed with celiac disease. Why does it take so long in some.[00:15:00]  

[00:15:01] I think a lot of this. Is because of the variety of how patients show up with celiac disease. And sometimes the symptoms can be very subtle or the symptoms can be atypical. I think, um, a [00:15:15] lot of people in the medical field and outside of the medical field, Note about the classic presentation of celiac disease. 

[00:15:22] The young child who has failure to thrive, a big swollen belly might be throwing up or having diarrhea. tend to get [00:15:30] diagnosed, uh, very quickly. Okay. But what is actually more common is to be, to be less dramatic and to be older. So in our, in our program, the average age of diagnosis is about 10. 

[00:15:42] And these patients may have some [00:15:45] abdominal pain, they may have some fatigue. And, and like I referenced before, a lot of these symptoms are very frequent symptoms of, of childhood and of adolescence, and can be explained away for other reasons, either by the family and not coming to present. Care, you know, [00:16:00] not asking for help and sorting out the, the, the symptoms, but also the physicians may, may not think to send, um, the celiac testing, the celiac serology testing. 

[00:16:11] So I think, I think that the reason why it takes so long, or historically [00:16:15] why the reason why it has taken so long is because it, it, it, it can be, it can be complicated and tricky and I don’t think it’s always been on everybody. Um, radar to think about it in those more subtle, in those most more subtle cases. 

[00:16:28] I, I like to think that [00:16:30] we’ve gotten better through the years, um, and identifying it. Um, but I think there are still people who have symptoms for longer than they should before we figure it out. 

[00:16:38] so just so we’re setting the record straight, can you tell our listeners what are the correct tests for celiac disease [00:16:45] and what would you see on those tests come back where the pediatrician should refer to a gastroenterologist? 

[00:16:51] Absolutely. Our best blood test is something called tissue transaminase. Which is a mouthful iga, we call it ttg IGA for [00:17:00] short, sort of a short way to say it. Um, so that test is a really helpful test, um, when you’re worried about someone having celiac disease, and we recommend sending it with a total iga. 

[00:17:11] So immunoglobulin A is one of the components of our immune [00:17:15] system, and it’s a building block of the antibodies. And so you need to have enough IGA in your body in order to make the TTG IGA antibody that we see with celiac disease. And what’s interesting is that patients with celiac [00:17:30] disease have a. Risk of having something called an IGA deficiency where your body doesn’t make enough of that immunoglobulin. 

[00:17:37] And so you need to know if your patient, if that person has enough IGA to have a positive test. So it’s really [00:17:45] important to send the ttg iga and the total iga now. If someone doesn’t have enough iga, um, there are other tests that we can send. Um, and the best test is something called the de contaminated GL and peptide, I g G, [00:18:00] and that’s the, that’s a really good test to send in someone who doesn’t have enough iga, to mount a positive response. 

[00:18:07] So if they have a negative TTG level, but uh, only a positive iga, would they still be referred to gastroenter? [00:18:15] Um, 

[00:18:16] They probably would be. Yes. Um, there are, like you’re referencing, there are other tasks that can be sent, um, looking for celiac disease and some of them are better than others. You know, I, I think the bottom line is that, um, some of the [00:18:30] tasks that are out. Are not as good. Um, but if they’re positive, they’re really hard to ignore. 

[00:18:35] And we know that celiac disease doesn’t always follow the rules. And sometimes we have people with celiac disease who don’t have the typical blood test positive. You know? So if there’s [00:18:45] something that doesn’t seem right, whether that’s a lab, whether that’s an IgG based lab or something about your patient, even if the blood work comes back for celiac disease and it’s normal, if you’re worried about that. 

[00:18:56] You know, most gastroenterologists will be happy to see them [00:19:00] and to help sort it out because we know that sometimes celiac disease can, can be difficult to diagnose. 

[00:19:06] So the biopsy is something that happens once they get to the gastroenterologist, but it’s not something that all parents are comfortable with. Especially now that there’s more [00:19:15] knowledge about the European guidelines that aren’t always requiring the biopsy for diagnosis. Can you talk about how gastroenterologists evaluate if a biopsy is the right choice for a patient? 

[00:19:24] Of course, this is another conversation. We have a lot with our, with our families and our patients. [00:19:30] Um, we’re lucky that we have the European guidelines that outline a subset of patients with celiac disease who might not need the biopsies because that has given us a lot of flexibility and how we make the D.[00:19:45]  

[00:19:45] But the gold standard or what we have always thought of as sort of the gold standard or the best way to diagnose celiac diseases with biopsies. Um, and, and there’s a good reason for that. It is, it is a very clear way of knowing if somebody has celiac disease, because [00:20:00] we know the blood work isn’t right a hundred percent. 

[00:20:01] So I think there’s a lot of value to getting small bowel biopsies to really know where you’re starting. I, there is data that shows kids who have biopsy confirmed disease do better long term on the [00:20:15] diet. Um, I think that that is true in some cases. I have other patients who have not been biopsy confirmed to do beautifully on the diet. 

[00:20:22] Um, so that piece isn’t, isn’t a, a big convincing factor to me, but it is something that I mention to families. Um, [00:20:30] the other piece is that by having biopsy confirmed disease, I think it opens doors for you in the future in terms of being. 

[00:20:37] Oh. 

[00:20:38] Facilitating involvement in future clinical trial trials or having access to new medications that we [00:20:45] hope, or treatments that will, will come out to treat celiac disease. 

[00:20:47] So, you know, I, I think that, we sort of go through the reasons why biopsies are helpful, but we also discuss the serologic guidelines if somebody does fit into that. And there are some kids who a [00:21:00] biopsy is not the right choice, you know, some. Have already put their child on a gluten-free diet, and, and if you do the biopsies on a gluten-free diet, you don’t get a good answer. 

[00:21:09] Um, so if someone’s already on a gluten-free diet and feeling a lot better, it can, The idea of going back on [00:21:15] gluten for biopsies can be very difficult. Um, so that might be a, a patient that you would, you would not do the biopsies, and there’s some patients who have medical concerns that make the sedation and the procedure itself more dangerous. 

[00:21:28: we break it down and, and, and in the end it comes down to shared decision making between the patient, their family, and us, you know, and deciding what the next best step is. 

[00:21:39] So we can’t leave celiac testing without at least touching on genetics. Does a positive genetic test mean that they [00:21:45] have celiac disease or will get celiac disease? 

[00:21:48] No, it’s a great question. So there are genetic tests for other diseases where if you have this gene, you will in your lifetime develop this disease. That is not what we have currently for celiac.  

[00:21:58] So when you [00:22:00] look across the population, um, about 40% of people will have one of the HLA markers that we see with celiac disease, either D Q two or D Q eight. That’s a lot of people we know there’s a [00:22:15] lot of celiac disease out there, but it is certainly not 40% of the population. 

[00:22:18] Our estimate is it’s about 1% of the population has celiac disease. Interestingly, if you take that group of people who have one of those HLA markers, only about 4% of them develop celiac [00:22:30] disease in their lifetime. So certainly having one of those markers makes your risk higher of developing celiac disease, but it is not a slam dunk diagnosis. 

[00:22:39] And if you get a little more complicated, there are certain patterns of HLA typing that can, that can happen, [00:22:45] that give you even higher risk. So it, it, it is a helpful piece of information, but it does not seal the deal of the celiac diagnosis. 

[00:22:54] So we know that a gluten-free diet eliminating all forms of wheat, Ry barley is the only treatment for celiac [00:23:00] disease. What is the best way for a patient family to learn how to adapt to this lifelong diet? 

[00:23:07] It can be a complicated diet and we highly recommend that patients see a [00:23:15] specialized dietician who understands the gluten-free diet to really learn the nitty gritty details about where you need to be careful and where you don’t need to be careful. I think that is one of the most important steps that patients can, can do for themselves when they get the [00:23:30] diagnosis of celiac disease. 

[00:23:31] so I think, I think you need, you need some education from a specialized dietician, and then you need to just plow forward and practice and, and Perfect, perfect. Your label reading. 

[00:23:43] So let’s switch gears and talk about related [00:23:45] conditions. You touched on this a little bit in the beginning, but I wanna talk about it in more depth. We know there are a lot of other autoimmune diseases that are related to celiac. What are the most common. 

[00:23:54] there’s so many different autoimmune diseases and I, you know, we see patients with celiac disease with many other [00:24:00] things like psoriasis or uh, inflammatory bowel disease, but I think the most common are diabetes and thyroiditis. 

[00:24:06] So should someone who’s newly diagnosed with celiac disease be tested at the point of diagnosis for these coexisting conditions, or when is the right time to test, 

[00:24:14] That’s a [00:24:15] great question. So certainly. When we make the diagnosis of celiac disease, if someone is having other symptoms that point towards another disorder, like an autoimmune thyroid condition or an autoimmune skin condition or diabetes, [00:24:30] certainly we would do testing and evaluation at that point in time. 

[00:24:33] Um, and. It’s interesting. There are some of these autoimmune diseases that we can screen for with a blood test. Like it’s very easy to test someone’s thyroid function, uh, by a blood test. But some of the other, [00:24:45] um, some of the other autoimmune diseases is they’re not as easy to screen for and it’s really more of a clinical diagnosis. 

[00:24:51] But we do absolutely recommend screening patients either with blood work or with close careful clinical monitoring by [00:25:00] asking questions and, and seeing how they’re. Um, Absolutely. And we do that from the moment they’re diagnosed. And importantly, we recommend continuing to do that through the years on a gluten-free diet. 

[00:25:12] Is this something that you would test for at every annual follow up [00:25:15] visit?  

[00:25:17] Yes, depending on the family history. Otherwise, you would do it certainly within the first year of diagnosis, and then maybe every other year, depending on your level of concern. 

[00:25:29] Is there a [00:25:30] way to prevent developing a related condition or predicting if someone will get one? 

[00:25:34] Not yet, but we’re really hopeful that we’ll have the science to be able to better predict that. And certainly if we’re able to prevent it, that would be amazing and I look forward to that [00:25:45] day. But right now, no. The best thing that we can do is to address the Celiac disease. Treat the celiac disease. Heal the intestine and try to promote health in every way possible to prevent other diseases. 

[00:25:57] But it, but we don’t have a specific way [00:26:00] of, preventing autoimmune disease at this time. 

[00:26:03] Well, thank you Dr. Weir so much for all of the wisdom you have shared today. This is really going to tee up the rest of the season of our podcast so nicely as we talk more about celiac disease and all of these different [00:26:15] conditions that are related to it. So now let’s find out where Peter and his family are today. 

[00:26:21] Guest: It’s been almost seven years since Peter was diagnosed with celiac disease. Today he is a thriving fourth [00:26:30] grader, one of the tallest in his class. He’s an active member of the Celiac Kids Connection at Boston Children’s Hospital and loves attending gluten-free cooking classes. Gluten-free spaghetti with bona and tacos are his favorite foods. His [00:26:45] family has rallied together and adapted to gluten-free. vacations look a little different. They do lots of research in advance, but always find great food in the destinations they visit. In Peter’s words, I don’t mind being gluten free. It makes me [00:27:00] healthy and special.  

[00:27:01] Host: Thanks for listening to this episode of Raising Celiac. A special thanks to the generous contribution from the Global Autoimmune Institute to make this podcast possible, A reminder to all physicians, nurses, social workers, and dieticians to [00:27:15] claim your continuing education credits. For listening to today’s episode, please visit DME dot children’s hospital.org/raising celiac and complete the short survey attached to this. 

[00:27:26] If you like what you heard, be sure to write a review, like and [00:27:30] subscribe wherever you get your podcasts. For more information, check us out on social at at Boston Children’s Celiac, on TikTok, at Children’s Celiac, on Twitter, or at Celiac Kids’ Connection on Instagram. Join us next month when we discuss the relationship between celiac disease [00:27:45] and inflammatory bowel Disease with Dr. 

[00:27:47] Ines Pinto Sanchez from McMaster University in Hamilton Health Sciences. Have a great month.