Season 2 Episode 3: Predicting Celiac Disease in Type 1 Diabetes
Course Credit
The following credits are available for this course:
AMA PRA Category 1 Credits™ (MD, DO, NP, PA) | 0.75 hours |
Contact Hours (Nurse) | 0.75 hours |
ASWB ACE Continuing Education Credits (Social Worker) | 0.75 hours |
CDR CPEUs (Registered Dietitian) | 0.75 hours |
(Note: a course evaluation is required to receive credit for this course.)
Vanessa Weisbrod
Director, Celiac Disease Program
Janis Arnold, MSW, LICSW
Clinical Social Worker, Division of Gastroenterology, Hepatology, and Nutrition
Danny Mallon, MD, MSHPEd
Pediatric Gastroenterologist, Cincinnati Children’s Hospital
In this episode of Raising Celiac, we explore Emily’s journey of being diagnosed with both type 1 diabetes and celiac disease. Despite the absence of early digestive symptoms, subtle signs led her family to seek further screening. We’ll discuss the importance of regular autoimmune disease screening in children with type 1 diabetes and how early detection of celiac disease can improve outcomes. Our guest, Dr. Danny Mallon from Cincinnati Children’s Hospital, joins us to share insights on managing multiple autoimmune conditions and the potential for new screening methods that could reduce the time to diagnosis and the need for invasive procedures.
Learning Objectives:
At the conclusion of this educational program, learners will be able to:
- Understand the relationship between type 1 diabetes and increased risk for celiac disease in children.
- Explore the subtle signs of celiac disease that may appear in patients with type 1 diabetes, even in the absence of traditional digestive symptoms.
- Gain insights into emerging screening methods that aim to improve the early diagnosis of celiac disease and reduce the need for invasive testing in children with autoimmune conditions.
In support of improving patient care, Boston Children’s Hospital is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physicians
Boston Children’s Hospital designates this live activity for a maximum of 0.75 AMA PRA Category 1 Credits ™. Physicians should claim only credit commensurate with the extent of their participation in this activity.
Nurse
Boston Children’s Hospital designates this activity for 0.75 contact hours for nurses. Nurses should only claim credit commensurate with the extent of their participation in the activity.
Social Work
As a Jointly Accredited Organization, Boston Children’s Hospital is approved to offer social work continuing education by the Association of Social Work Boards (ASWB) Approved Continuing Education (ACE) program. Organizations, not individual courses, are approved under this program. State and provincial regulatory boards have the final authority to determine whether an individual course may be accepted for continuing education credit. Boston Children’s Hospital maintains responsibility for this course. Social
workers completing this course receive 0.75 ACE CE continuing education credits.
Dietician
Boston Children’s Hospital designates this activity for 0.75 contact hours for dieticians. Dieticians should only claim credit commensurate with the extent of their participation in the activity.
Disclosures
Boston Children’s Hospital adheres to all ACCME Essential Areas, Standards, and Policies. It is Boston Children’s policy that those who have influenced the content of a CME activity (e.g. planners, faculty, authors, reviewers and others) disclose all relevant financial relationships with commercial entities so that Boston Children’s may identify and resolve any conflicts of interest prior to the activity. These disclosures will be provided in the activity materials along with disclosure of any commercial support received for the activity. Additionally, faculty members have been instructed to disclose any limitations of data and unlabeled or investigational uses of products during their presentations.
The following planners, speakers, and content reviewers, on behalf of themselves, have reported the following relevant financial relationships with any entity producing, marketing, reselling, or distributing health care goods or services consumed by, or used on patients:
Vanessa Weisbrod
None
Janis Arnold, MSW, LICSW
None
Danny Mallon, MD, MSHPEd
None
Please see the FAQs below for common questions about how to work through a course. If you have a question or issue that is not addressed in the FAQ, please use this form to submit a help request, or if your issue is urgent, call the CME office at: 617-919-9908.
How do I navigate this course? There are two ways to access and navigate course content with the interactive table of contents: at the bottom of the main course page or in the sidebar on the right side of the page. Select the links in the table of contents to access the corresponding content. Depending on the course, access to content may be linear, in which case each content module or section can only be accessed if the prior ones are completed, or non-linear, in which case modules and sections can be accessed in any order. Use the breadcrumbs at the top of any course page to orient yourself within a course, or return to a previous course section or the main course page. How do I claim credit? If the course has been accredited, available credits will be displayed on the course home page. Select only those credits that apply to your profession, and click/tap “Apply Selection.” You may make your selection at any point while you are taking the course, or after you have completed it. How do I download a certificate? There are two ways to view/download your certificate: from within the course or from the course listing under your profile (select the document icon). In either case, you must have selected at least one available course credit type to generate a certificate. How do I view/print my transcript? You must be logged in to view your transcript. Select My Profile at the top of the page. If you do not see the transcript selector, be sure the Courses tab is selected. Select the type of credit and dates to include in your credit report. To include all credits from all time, leave the options blank. Select Download Transcript to view/download your transcript. Note each credit type in your transcripts starts a new page. How do I request a refund? Please email the CME Department to request a refund.How do navigate this course?
How do I claim credit for this course?
How do I download a certificate?
How do I view/print my transcript?
How do I request a refund?
Click Here to View Transcript
Vanessa Weisbrod:
Welcome to season two of Raising Celiac, a podcast dedicated to raising the standard of education, awareness, and research on celiac disease and related autoimmune conditions. We have some exciting changes for this season. The Boston Children’s Hospital Celiac program has teamed up with the Celiac Disease Foundation to expand the reach of our educational podcast. Our goal is simple. To provide education to as many health providers and patient families as possible. I’m Vanessa Weisbrod and I’ve started a new role as the Chief Education and Community Engagement Officer at the Celiac Disease Foundation. In every episode, you’ll also hear from Janis Arnold, an incredible social worker at Boston Children’s Hospital, who is the voice of our patient stories.
Each month on the podcast, we will invite leading experts to dive into a hot topic related to celiac disease and look at how it impacts a patient family, the latest research and offer suggestions for health providers to manage these complex cases. Every episode of the Raising Celiac podcast is accredited by the Boston Children’s Hospital Continuing Education Department for physicians, nurses, social workers, dieticians, and psychologists. To claim your credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac. We’ll also drop that link into the show notes.
Thank you to the Global Autoimmune Institute and the Celiac Disease Foundation for making this podcast possible. Now, let’s get started with this month’s Raising Celiac patient story.
Janis Arnold:
Emily was diagnosed with type 1 diabetes at the age of eight. Her family quickly adapted to managing her condition, learning the ins and outs of blood sugar checks, insulin shots, and meal planning. At every appointment, Emily’s doctors reminded her parents that children with type 1 diabetes are more likely to develop other autoimmune conditions, particularly celiac disease. Still, Emily showed no obvious signs of digestive issues, so the possibility of celiac disease was far from their minds.
Vanessa Weisbrod:
Screening for other autoimmune diseases in children with type 1 diabetes is crucial because these conditions often co-occur, increasing the risk for complications. Early detection of diseases like celiac disease and thyroid disease allows for timely interventions which can improve long-term health outcomes and quality of life. Managing multiple autoimmune conditions can be challenging, but regular screening helps ensure that symptoms are caught and treated before they become severe. Additionally, proactive screening reduces the likelihood of misdiagnosis, which is vital for effective disease management in this vulnerable population.
Janis Arnold:
As time passed, subtle changes began to surface. Emily often felt more tired than usual, complained of occasional stomach aches and seemed bloated after meals. She also had frequent headaches. Her parents thought these symptoms might be connected to her diabetes management or simply growing pains. But as Emily’s energy levels dropped and the symptoms persisted, they decided to bring it up with her doctor.
Vanessa Weisbrod:
The most common symptoms of celiac disease include gastrointestinal issues like diarrhea, bloating, and abdominal pain, which can lead to weight loss and malnutrition. However, celiac disease can also manifest with lesser known symptoms such as fatigue, joint pain, and skin rashes. In some cases, individuals may experience neurological symptoms including headaches, brain fog and mood changes. Because symptoms can vary widely and may not always involve the digestive system, it’s important for individuals at higher risk of developing celiac disease to be regularly screened.
Janis Arnold:
During a routine checkup, her doctor ran some additional tests including a celiac disease screening since children with type 1 diabetes are at higher risk. The results revealed elevated tTG-IgA levels, suggesting that Emily might have celiac disease. Although she wasn’t showing severe symptoms, her doctor recommended further testing to confirm the diagnosis. Emily received an endomysial antibody or EMA test, which came back positive. With these results, her doctors explained that a biopsy of her small intestine was necessary to confirm whether the gluten was damaging her intestines.
The idea of Emily going through a biopsy was daunting for her family, but they wanted to be sure before making any major dietary changes. Living with diabetes was hard enough. The biopsy results were clear. Emily had celiac disease. The damage to her intestines explained her fatigue, stomach aches and bloating. Though it was overwhelming to learn she had to manage not just one but two lifelong autoimmune conditions, Emily’s parents were relieved to finally have answers.
Vanessa Weisbrod:
Current guidelines recommend that children with type 1 diabetes be screened for celiac disease at the time of diagnosis, and again, between two years and five years regardless of symptoms. This screening typically involves blood tests to measure levels of tissue transglutaminase antibodies, and in some cases endometrial antibodies. If the initial screening tests indicate elevated antibody levels, further evaluation including a biopsy is recommended to confirm the diagnosis of celiac disease. But what if there were a way to use the blood test to predict development of celiac disease in children with type 1 diabetes?
Could this help prevent complications and improve management of the diabetes? Could it reduce the need for a biopsy? We’ll discuss this and more on today’s episode of Raising Celiac. Today we talk about the possibility of predicting development of celiac disease in patients with type 1 diabetes with Dr. Dani Mallon from Cincinnati Children’s Hospital, whose research aims to improve screening methods for celiac in pediatric patients with type 1 diabetes. Dr. Mallon is also one of my favorite celiac doctors, and I’m so excited he’s agreed to join us today. Welcome Dr. Mallon to Raising Celiac.
Dr. Mallon:
Thank you very much for having me. This is a huge honor.
Vanessa Weisbrod:
And well, we are honored that you are here. So to get started, can you tell us what prompted you and your team to investigate better predictors for celiac disease in children with type 1 diabetes?
Dr. Mallon:
Yes, I would love to. I actually want to go back a little bit farther because the impetus for this research takes me back to my first real steps into the world of celiac disease as a clinician and a researcher. When I first arrived at Cincinnati Children’s, one of the earliest opportunities I had was the endocrinologists had reached out to our division, seeking some help with helping to manage the patients who had both celiac disease and type 1 diabetes. Because what they noticed was just like in a broader population of patients with celiac disease, many of the patients didn’t continue to follow up with GI, but of course, they continued to follow up with their endocrinologist for their diabetes management.
And the endocrinologists often didn’t quite know how to counsel them about their celiac disease, but they had a lot of questions, and so they wanted a partner in GI. The other question they had was, how do we implement this? At the time, back in 2014-2015, relatively nebulous landscape of a general recommendation to screen for celiac disease amongst patients with type 1 diabetes and with an interest in quality improvement, we set about trying to standardize a process for our screening. And that began a journey for me where I started to receive most if not all of the referrals for patients with type 1 diabetes and suspected celiac disease. We started to get these labs back and it wasn’t as black and white as the recommendations might indicate that they could be.
And so what we noticed was that there were plenty of patients with high tTGs, but whose biopsies came back normal when we took them for an endoscopy. And then there were plenty of patients who had very mildly elevated tTGs, but then when we took them to biopsy, they had full-blown celiac disease. So it started me asking questions about how can we try to identify the right patients to avoid unnecessary endoscopies? And also is there anything that we can learn about these patients before taking them to endoscopy that really gets us thinking that they truly have celiac disease?
Vanessa Weisbrod:
That’s so interesting, and I love that your experience really led you to ask these questions. It’s such a great way to start research. So how might early detection of celiac disease in these kids with type 1 diabetes help prevent complications associated with both autoimmune conditions?
Dr. Mallon:
So we know that patients with celiac disease are at risk for multiple health complications related to their celiac disease, including nutrient deficiencies like iron deficiency, osteopenia, poor growth, and then especially in patients with type 1 diabetes who already have a risk of cardiovascular disease from their diabetes. It seems like having a dual diagnosis may confer even more risk of cardiovascular complications. And so because many of these complications take time to develop, we take the stance that identifying and treating celiac disease as early as possible can help try to prevent those complications.
I think we do have definitely good studies that show that identifying celiac disease and treating it can improve weight, it can improve iron status and anemia. There are mixed results on whether or not it improves blood sugar control. There’s some studies that suggest that it doesn’t make a big difference, but there’s definitely some studies that it helps with blood glucose variability, trying to avoid very high or very low blood glucoses. And then we have mixed results on whether it has a meaningful impact on their quality of life because there are some studies that suggest there may be a reduction in their quality of life. Others say their quality of life is the same as other patients with type 1 diabetes.
Then there’s some studies that do suggest that there is an improvement in quality of life. And one of the most compelling sets of studies is when patients are identified as having celiac disease and they have good adherence to their gluten-free diet, they do have better outcomes both from a glucose control perspective as well as quality of life. So if we can put a team around them to help support them to achieve that great adherence to a gluten-free diet and great blood glucose control, then these guys can have a really excellent quality of life despite having two chronic diseases.
Vanessa Weisbrod:
And that’s what we all want, right? It’s so hard to have two conditions. It’s hard to have one condition, but getting to that place where you can manage it and have the best possible quality of life is just absolutely the most important thing. So your study identified elevated tTG-IgA levels greater than 10 times the upper limit of normal as a strong predictor of celiac disease. This may be an obvious answer to many in the celiac community, but for those listeners who are unaware of the ESPGHAN criteria, could you tell them about it?
Dr. Mallon:
Sure. We did set a cutoff of that 10 times the upper limit of normal because that’s what’s used in the ESPGHAN criteria and ESPGHAN is the European Society for Pediatric Gastroenterology Hepatology Nutrition. They’re our colleagues over in Europe and they proposed back in 2012 some criteria for diagnosing celiac disease without a biopsy. And then they revised those recommendations in 2020 to include a tTG-IgA level that is greater than 10 times the upper living of normal for that lab, and then also a second blood draw that identifies a positive endomysial antibody.
And that was also part of what we analyzed. And so we wanted to look specifically at whether or not the ESPGHAN criteria perform very well, specifically in a type 1 diabetes pediatric population.
Vanessa Weisbrod:
So how does the presence of positive EMA results complement the tTG-IgA levels in predicting celiac disease? Are both necessary for the strong prediction?
Dr. Mallon:
So our study did provide more data that helps support that there is a high positive predictive value that is a statistically important way of trying to identify how well a test performs at trying to predict true presence of disease. And so it does give a high positive predictive value when you have a positive EMA, but it’s not the whole story. And that was really what some of our early observations showed us is that we did have some patients with positive EMAs that didn’t have celiac disease when we took them for biopsy. So what we noticed is that having both a very high tTG greater than 10 times the upper limit of normal and a positive EMA, the vast majority of those patients do have celiac disease, but not all.
And that’s important. So it’s not always perfectly accurate in that there were two of our patients who had exactly those findings who had non-diagnostic biopsies. Even when we looked very closely at the biopsies again, we wanted to find out if this was just a misdiagnosis, but really we agreed again that this wasn’t true celiac disease at the time. And each of those patients have had a couple of years worth of follow-up and have still not been diagnosed. So it raises the issue that those criteria even put together are not perfect, and that’s important because if you put somebody on a gluten-free diet essentially for life, then that’s a really big deal.
Of course, we all agree. And we wanted to know if there are times when we have patients who don’t quite meet those criteria for celiac disease, but who do have abnormal labs to that extent.
Vanessa Weisbrod:
Absolutely. So one of the challenges that you mentioned in the study is that tTG-IgA can sometimes be falsely elevated in children with type 1 diabetes. How does your study address the issue of false positives and what improvements might it bring to reducing the unnecessary biopsies?
Dr. Mallon:
So what we’re proud of is that it was a large cohort of patients with type 1 diabetes, not just a mixed bag of other patients at high risk based on a family history or other autoimmune diseases, but specifically in type 1 diabetes. That we put forward a large group of patients. And our study mirrors a lot of the other studies that suggest that there are patients who have false positives. You’re going to have a higher rate of false positives if you have a mildly elevated tTG. And if you have a very elevated tTG, and especially because our assay allows us to detect way above the 10 times the upper limit of normal. The higher it gets, the more addictive it is that you truly have celiac disease.
And so mildly elevated tTG levels definitely are something where it’s not a done deal that you have celiac disease. And for patients who are thriving, it is appropriate to watch that patient, especially if the testing is done early in the diagnosis or at the diagnosis of type 1 diabetes. So we built into our screening algorithm to allow time to pass to see if those levels, especially mild levels, under five times the upper limit of normal to see if they get better over time. And I think that our study still supports that practice that a lot of celiac experts take on.
It also does help support the use of endomysial antibody as a secondary test that if it’s positive, it does increase your positive predictive value even at lower levels of tTG elevation. We also have this wide spectrum. And so if you have patients who have a persistently positive tTG or a rising tTG, and especially if they have a positive EMA, then it does seem like those are prime candidates to take for biopsy.
Vanessa Weisbrod:
Absolutely. So based on your findings, how might screening guidelines change for children with type 1 diabetes to improve this early detection of celiac disease?
Dr. Mallon:
This is a difficult question to answer because trying to come up with great recommendations that find all the patients that have celiac disease and don’t put too many kids under unnecessary procedures has been elusive because of the wide spectrum of what we find when we check these labs. And also our study lent more data to suggest that we can’t trust symptoms, and we only had some small signals over some other labs like ferritin might be a little bit lower in patients who truly have celiac disease, but it’s subtle.
And so what I do see for the future is that we should try to standardize an approach to screening, building an allowance for some abnormal labs and observation for mildly elevated levels, but also making sure that we take a patient to biopsy sooner if they’re showing signs of celiac disease, especially serious complications like poor growth. I think it does bear consideration and I think including endomysial antibody as a consideration for patients who have a screening positive tTG-IgA may help sway the decision about whether or not to take a patient for a endoscopy and biopsy. And we absolutely would endorse being cautious when assigning a lifelong diagnosis of celiac disease based on serologies alone.
Vanessa Weisbrod:
Absolutely. You don’t want to have to stick to that gluten-free diet if you don’t absolutely have to. So you mentioned that symptoms are not reliable predictors of celiac disease in this type 1 diabetes patient population. Can you talk a little bit more on why symptoms are less predictive in this group compared to the serological markers?
Dr. Mallon:
It’s a great question. I think it highlights that our serologic markers are pretty good, and we’re lucky to have such relatively accurate biomarkers, especially when they’re very high. But our population of patients with type 1 diabetes who are getting screened is definitely biased by selecting patients that are already at high risk of celiac disease because of their diabetes. So we’re going to have a disproportionate number of patients who have celiac disease but no symptoms because otherwise we wouldn’t necessarily be checking. There’s also a bit of, I think, some bias included when you have an abnormal lab and you go see a gastroenterologist to be evaluated for possible endoscopy.
You really dig in on those questions. Have you ever had any abdominal pain? Really even a little bit? And so I think we dig in and I think there also may be the power of suggestion. When you have an abnormal test, you start to second guess whether or not you’ve been paying close attention to any symptoms that may be subtle. And so I think it makes for a mixed population of patients who are asymptomatic with a high risk of the condition plus patients who may be labeled symptomatic, but in fact, the symptoms are relatively mild. And we already know that intermittent abdominal pain can be present in more than half of all school children, whether they have a disease like type 1 diabetes or celiac disease or none of the above.
And so because abdominal pain is common and because we’re asking such detailed questions and we have this patient population that’s already at high risk where you’re going to find some patients who are asymptomatic, I think that probably accounts for the wide spectrum of symptoms and no symptoms at all when it comes to celiac disease.
Vanessa Weisbrod:
What about the symptoms that are less classic or noticeable? I spent a lot of time working with families and kids going to school, and I’m always shocked by the parents who say, “Does it really matter if they have gluten at school? My child was completely asymptomatic.” And I say, “Well, what were their symptoms?” And they’ll say, “Well, they were diagnosed because they had really severe anemia or they weren’t growing quickly enough.”
And I always think to myself, “Well, aren’t those symptoms?” Because obviously it was not being on the gluten-free diet was causing them to be severely iron deficient or to not grow at the appropriate rate that they should be for a child. Is there any difference between the more physically noticeable symptoms and the more subtle ones?
Dr. Mallon:
When we get down to word choice, some people will call them symptoms versus signs, but in the end of the day, they’re all really meaningful and important impacts of the presence of celiac disease. And so I definitely take anemia and poor growth or poor weight gain as a very important symptom or sign because you’re already showing the signs of complications of celiac disease, not even just the presence of inflammation and damage in the intestine, but you’re seeing the downstream effects of it already. And we know that a lot of those take time to develop, and so we know that the problems have been there for a little while and are already showing themselves.
So I find that those sorts of non-immediate non-gastrointestinal symptoms, while they may be subtle and not immediately identified as celiac disease signs, they’re very important because they’re already down the road suffering the complications of celiac disease. I think those are really meaningful things because we can point to them and families can notice them, and they use those as motivation to stick to the diet even when they don’t have stomach aches or nausea or throwing up or diarrhea when they become exposed to gluten either knowingly or by accident. And I joke with my patients, I think it’s fortunate sometimes when patients have symptoms immediately when they have gluten because then they have this immediate feedback about whether or not they had gluten.
But I don’t love that it creates a fair amount of anxiety that they really don’t want to eat anything that has gluten because they’re afraid that they’re going to hurt. It’s definitely a double-edged sword about whether or not you have symptoms because it’s a tough sell for an asymptomatic patient who hasn’t developed any complications, but they know they have this other disease in celiac disease and maybe in our teenagers and more developed kids will know that it’s bad for them and their parents know that it’s bad for them, but they may not really internalize what it means to have this problem because they’re not having symptoms.
And so it really is a decision rather than a reaction to having symptoms whether or not they’re going to adhere to the diet. So it is a big challenge for our patients who are asymptomatic to follow the diet.
Vanessa Weisbrod:
For sure. Can you talk to our listeners about the role of the shared genetic predisposition, the HLA-DQ2 and DQ8 in patients with both type 1 diabetes and celiac and how the genetic factors could possibly impact your approach to screening?
Dr. Mallon:
So we know that HLA-DQ2 and DQ8 are shared genetic profiles between type 1 diabetes and celiac disease. It’s always been my understanding that DQ8 is a little bit more prevalent in type 1 diabetes, but it also accounts for a fair amount of the risk in celiac disease. And so we know that that underpins lot of the overlap between the two disorders. There’s also some science that may link the two through other immune mechanisms in the gut, and that probably has to do with their susceptibility conferred by the HLA genotypes. I think when it comes to clinical practice, there is some argument to checking a HLA genotype to see if they do have the risk of HLA-DQ2 and DQ8 because it’s not a hundred percent of patients with type 1 diabetes that have DQ2 and DQ8.
I think it also bears to note that not all patients with celiac disease have an identifiable DQ2 and DQ8. It’s just the very, very vast majority. And so I think there could be a role for checking genetics maybe to try to lower the anxiety and lower the frequency of screening. But I think for any patient, no matter what their genetic profile, if you do have an autoimmune condition that will put you at risk for celiac disease and/or if you have other signs or symptoms of celiac disease, it always bears evaluating even if you have been identified as having no DQ2 or DQ8 in your genetic profile. So I think there may be some promise of checking it, but I am always looking out for the exceptions to the rule.
And so I think there probably is some promise to using genetic profiling to try to stratify risk and guide screening over a child’s lifetime.
Vanessa Weisbrod:
Absolutely. So what are the clinical implications of your study for pediatricians managing children who have both celiac and type 1? How should they approach monitoring and diagnosing these patients?
Dr. Mallon:
Pediatricians, of course, serve indispensable function in managing their patients who have chronic diseases. There’s definitely pediatricians who shoulder a lot of the management for celiac disease and type 1 diabetes, especially if their specialists, endocrinologists and gastroenterologists, are not close by in proximity or if they have any difficulty in accessing them. I think it’s very important that pediatricians should know that screening is indicated and that it should be happening at regular intervals. I think it’s my experience that endocrinologists do a very good job of carrying out the screening in their patients, their type 1 diabetes, but pediatricians ought to know that it’s happening and/or filling in the gap if they’re not getting screened otherwise.
I think it’s also very important that the results that come back on celiac screening are not always black and white and that all patients should have their diagnosis of celiac disease made by a pediatric gastroenterologist who can sift through the nuances of serologic data. I think it’s also crucial to make sure that everybody taking care of these patients know that they should continue to eat gluten until a confirmatory test has been done and a consultation with a pediatric gastroenterologist has been done to make sure that any secondary testing or confirmatory testing is reliable because they’re still having gluten in their diet.
Vanessa Weisbrod:
Absolutely. And that’s one of the things, it’s always hard, right? That you have to make sure they’re still eating gluten, that they get the right test done and they get to the gastroenterologist because it’s not just getting to the gastroenterologist for the diagnosis, but all of the support that comes with actually getting that celiac disease diagnosis.
Dr. Mallon:
Right. And too often we have the experience of patients who have changed their diet or never really made it to the gastroenterologist, and were diagnosed with celiac disease based on labs alone, which our study and others have suggested that unless it’s very compelling, it may not be sufficient or accurate.
Vanessa Weisbrod:
So we’ve spent most of today talking about patients being diagnosed with type 1 diabetes first and then screening for celiac. Does it ever happen the other way around where a patient with celiac disease is then later diagnosed with type 1 diabetes?
Dr. Mallon:
Yes, it does. It is not common, but it does happen. And in some studies it’s estimated between five and 7% of patients with both celiac disease and type 1 diabetes were diagnosed with their celiac disease first. It has been a gratifying experience when I’ve helped make the diagnosis in my patient with celiac disease where you’re checking for signs of type 1 diabetes and they actually had it. And so getting them keyed in to the diagnosis of their type 1 diabetes felt like a real win for that patient where we knew what we were looking for in follow-up in their celiac disease. I think the other new things on the horizon, really they’re here, is screening for patients with celiac disease for the possibility that they have type 1 diabetes in early stages that are pre-symptomatic.
And so there’s this idea that there are patients with the antibodies that cause the damage in type 1 diabetes that lead to the pancreatic dysfunction where you don’t make insulin anymore. But that early stage where they just have antibodies but no symptoms and normal blood glucose is you can identify those patients through antibody screening. And then the data on preventing diabetic ketoacidosis, which is a very dangerous outcome of uncontrolled diabetes that oftentimes is present when patients first get diagnosed with diabetes. If you can prevent that condition as their first manifestation of their diabetes, then that is a really big win to prevent a life-threatening condition.
And then there’s also some new medications out that may have the promise of delaying the onset of type 1 diabetes. So it’s something that a lot of us in the celiac world are starting to do is to encourage our patients to be screened for type 1 diabetes through antibody testing.
Vanessa Weisbrod:
That’s so great. So how do the findings in your study impact the way healthcare providers should advise patients with both conditions on dietary management and long-term monitoring?
Dr. Mallon:
So I mentioned this earlier, but there have been a couple of great research studies that indicate that adhering to a gluten-free diet and being successful in the diligent management of diabetes leads to a better quality of life and better short and long-term health outcomes. Anecdotally, and also in those research studies, patients are often doing excellent at both and really thriving, but often are struggling with both too.
And so there’s so many factors that go into managing both diseases, that I’m a big advocate for a multidisciplinary team to handle both their type 1 diabetes and their celiac disease with a great gastroenterology team and a great endocrinology team, and it’s even better when those teams are working together.
Vanessa Weisbrod:
Absolutely. So important. So what are the next steps in research to refine these serological thresholds for celiac diagnosis in the type 1 diabetes population? Are there other markers or tests you believe could further improve the diagnostic accuracy?
Dr. Mallon:
Yes. So I think through this study and through reading other researchers’ excellent work, that the combination of endomysial antibody as a secondary blood test in addition to the tTG-IgA screening antibody, that combo is a really important way to try to identify patients with celiac disease. One thing that we’ve found in our study is that if you’re a little bit more exacting in the way that you do your endomysial antibody testing by finding the most dilute sample of blood that’s still positive.
It’s essentially getting a degree of positivity of the endomysial antibody can really help zero in on patients, much like the degree of elevation of tTG-IgA. I think there’s also some new advances in the field around genetic screening as well as new biomarkers like IL-2 and microRNA profiles, and then metabolomic data that’s still coming out. It seems like it’s relatively new on the block and not ready for clinical prime time use, but I think there’s real promise in some of these newer biomarkers for true celiac disease that may be incorporated into new screening approaches.
Vanessa Weisbrod:
Wow. Well, Dr. Mallon, this has been such an amazing discussion and we are all truly so grateful for all of the incredible work that you’re doing. So now before we end for the day, let’s find out where our patient Emily is today.
Janis Arnold:
Adjusting to a gluten-free diet while managing her diabetes wasn’t easy, but with the support of her healthcare team, Emily slowly regained her energy. Today, her family is grateful for the early detection, even though Emily’s symptoms were subtle. In her own words, Emily says, “Having celiac and diabetes is really hard, but I’m learning how to still be involved in fun things like birthday parties and hanging out with friends. I know that I’m going to grow up to be strong and healthy because my doctor found out I had both diseases really fast.”
Vanessa Weisbrod:
And now a word from the Global Autoimmune Institute.
Speaker 4:
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. We are thrilled to support the production of this educational podcast.
Vanessa Weisbrod:
Thank you for listening to this episode of Raising Celiac. A special thanks to the generous contributions from the Global Autoimmune Institute to make this podcast possible. A reminder to all physicians, nurses, social workers, dieticians, and psychologists to claim your continuing education credits for listening to today’s episode, please visit dme.childrenshospital.org/raisingceliac. If you like what you heard, be sure to write a review, like and subscribe wherever you get your podcasts. For more information, check us out on social at Boston Children’s Celiac on TikTok, at Children’s Celiac on Twitter, or at Celiac Kids Connection on Instagram. Have a great month.