March 30, 2026
Celiac Disease: Approach to Diagnosis
Gastroenterologist Dr. Sith Sekar joins Navin Kumar to review the diagnosis of celiac disease, including the presenting signs and symptoms, the optimal serology screening approach, the role of celiac genetic testing, and how to confirm the diagnosis.
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WEBVTT
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[SPEAKER_00]: Welcome back to Run the List.
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[SPEAKER_00]: Today, we will be discussing another high yield topic for primary care and GI clinic, and that is celiac disease.
00:08.481 --> 00:12.826
[SPEAKER_00]: We are, again, so lucky to have Dr. Sith, Saker joining us as our expert.
00:13.326 --> 00:23.017
[SPEAKER_00]: Dr. Saker is a general guest or alges at the Brigham Women's Hospital, and soon to be gastroenterology hospitalist, who has a particular interest in medical education.
00:23.698 --> 00:29.565
[SPEAKER_01]: Sith, thank you so much for joining us today.
00:29.849 --> 00:32.292
[SPEAKER_01]: and to help teach about this very important topic today with you.
00:33.234 --> 00:34.215
[SPEAKER_00]: Same here, Sith.
00:34.295 --> 00:35.657
[SPEAKER_00]: Let's go ahead and run the list.
00:36.618 --> 00:38.501
[SPEAKER_00]: Let's set the stage in GI clinic.
00:38.942 --> 00:48.315
[SPEAKER_00]: You are seeing a 34-year-old healthy female with a history of iron deficiency inemia who is presenting with bloating, a change in her stool quality, and fatigue.
00:48.936 --> 00:55.705
[SPEAKER_00]: She recalls being told to start an iron supplement in the past, but that it did not improve her fatigue or her blood count.
00:56.461 --> 01:07.582
[SPEAKER_00]: Her family history is notable for Type 1 diabetes and her mother, and on exam, you know it's skin paler and a mildly-distant abdomen with hyperactive bowel sounds and slight tenderness in the upper abdomen.
01:08.724 --> 01:08.985
[SPEAKER_00]: SIF.
01:09.806 --> 01:15.938
[SPEAKER_00]: Given that case presentation, what differential diagnosis comes to mind and how would you approach the initial workup?
01:16.762 --> 01:21.207
[SPEAKER_01]: Yeah, I think the differential is pretty broad with this presentation.
01:21.287 --> 01:24.571
[SPEAKER_01]: I think the first thing that really comes to my mind would be celiac disease.
01:25.131 --> 01:27.113
[SPEAKER_01]: Couple things really sort of stand out to me.
01:27.173 --> 01:37.805
[SPEAKER_01]: I think dire deficiency in Nemia that's refractory to supplementation is one thing, the family history of the type one diabetes, which increases the risk of celiac disease.
01:38.566 --> 01:41.329
[SPEAKER_01]: And I think that, I'll be the number one thing that comes to my mind.
01:41.429 --> 01:45.233
[SPEAKER_01]: Other things to consider would be things like small intestinal bacterial or overgrowth.
01:45.213 --> 02:07.153
[SPEAKER_01]: inflammatory bowel disease, crones, all sort of cleatus could present like this, and then IBSD in general, but I think celiac is sort of at the top, especially with iron, especially when you think about three to five percent of patients with iron deficiency, and you may have celiac disease, and then the refractory don't oral supplementation, especially where celiac affects in the jaw, in the adenum, in the adenum, where iron is absorbed.
02:07.589 --> 02:17.852
[SPEAKER_01]: And then, you know, some basic work of I would get would be things like CBC, TSH, COXerologies, and then a fickle calprotective, especially to evaluate that change in our stool quality.
02:18.440 --> 02:20.142
[SPEAKER_00]: All right, so that's a great starting point.
02:20.222 --> 02:33.675
[SPEAKER_00]: I love the emphasis on the iron deficiency andemia that is not improving with PO iron supplementation, which suggests that there could be some issue with malibosorption, and that's kind of hinting to you that this could be celiac disease.
02:33.775 --> 02:37.219
[SPEAKER_00]: All right, so, SIF, you mentioned celiac surallegies.
02:37.299 --> 02:40.662
[SPEAKER_00]: Can you discuss specifically what surallegies you send?
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[SPEAKER_00]: I know we talk about them in general, but what do you specifically send?
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[SPEAKER_00]: And why are those the labs that you send?
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[SPEAKER_01]: Yeah, I think when we sensile accelerologies, the big one that we're looking at is TTG IGA that's sort of the most the best combination of sensitivity and specificity for celiac disease, the important thing to know about that is that you need to also check the IGA level as well and then.
03:04.424 --> 03:09.650
[SPEAKER_01]: Also need to ask if the patient is still taking glue in a lot of these patients by the time they get to you.
03:09.670 --> 03:13.795
[SPEAKER_01]: They try to do a different dietary modifications, including stopping gluten.
03:13.816 --> 03:18.842
[SPEAKER_01]: So it's really important to ask about if they're still consuming gluten, because that can really affect the testing.
03:19.563 --> 03:19.863
[SPEAKER_00]: Perfect.
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[SPEAKER_00]: I've also had the situation where a patient has gotten a positive celiac serology, and then they were advised to stop eating gluten right away.
03:28.734 --> 03:31.377
[SPEAKER_00]: And then by the time they get to GI clinic, as you mentioned,
03:31.694 --> 03:36.801
[SPEAKER_00]: we're left in this situation where they had a positive CLX or algae, but now they're on a gluten-free diet.
03:37.302 --> 03:40.787
[SPEAKER_00]: And so we'll talk about that in a bit what we need to do in that case.
03:40.867 --> 03:43.291
[SPEAKER_00]: But getting back to what you just discussed.
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[SPEAKER_00]: So what happens if you send the tissue, transgutaminase IgA level, along with the IgA level, and the IgA level comes back undetectable?
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[SPEAKER_00]: What do you do with that result?
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[SPEAKER_01]: Yeah, I think that's sort of, you know, why you send IJ because you want to make sure there's no IGA deficiency because if it comes back undetectable and there's deficiency then the TTG, IGA is not reliable at all.
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[SPEAKER_01]: And in that case, then you would use IGG trans tissue glutaminate instead.
04:16.818 --> 04:23.274
[SPEAKER_01]: Or you can use any other sort of IDG based test sort of like a deaminated glute in protein testing.
04:23.735 --> 04:29.910
[SPEAKER_01]: But when it comes back and there's IDA deficiency then you want to choose more of a route of an IDG testing for it.
04:30.090 --> 04:32.937
[SPEAKER_01]: That's sort of where I would go when it's an IDA deficiency.
04:33.187 --> 04:33.648
[SPEAKER_00]: it great.
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[SPEAKER_00]: So, nice teaching point there to always send the IGA level, the total IGA level with any TTG IGA CLI test.
04:42.985 --> 04:55.347
[SPEAKER_00]: And then getting back to the scenario in which a patient comes to you on a gluten-free diet, but at some point had an elevated TTG IGA or other CLIxorology.
04:55.327 --> 05:03.275
[SPEAKER_00]: So, how do you think about working up those patients who have already started gluten-free diet but had a positive celiacs or algae as part of their work up?
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[SPEAKER_01]: Yeah, I think the next test I really think about is sort of genetic testing and luckily we have some pretty good genes that we've mapped to celiac and that would be HLA DQ2 and DQ8.
05:15.968 --> 05:20.752
[SPEAKER_01]: These are sort of really helpful because if negative, they're very, very sensitive.
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[SPEAKER_01]: So, negative, you can exclude celiac in these cases.
05:24.436 --> 05:30.568
[SPEAKER_01]: If positive, it's not as helpful, you sort of still have to go down the pathway, but it being negative can exclude the celiac.
05:30.588 --> 05:43.272
[SPEAKER_01]: So if it is positive, and you're in that case where they've already started a gluten free diet, then we would ask, you know, just re-challenged gluten, which can be difficult for a patient for at least two weeks and then repeats for all of you.
05:43.640 --> 05:55.185
[SPEAKER_01]: Good challenge is sort of trying to eat about one to three pieces of bread a day for sort of those two weeks or four weeks before repeating Surologies or other testing including a doc which we will talk about coming up
05:55.823 --> 05:59.807
[SPEAKER_00]: So that was super helpful to review those situations as they do come up.
05:59.887 --> 06:01.369
[SPEAKER_00]: I have to say with some frequency.
06:02.009 --> 06:07.575
[SPEAKER_00]: All right, so let's say our patient is consuming gluten and the initial labs are notable for a mild and anemia.
06:07.655 --> 06:10.198
[SPEAKER_00]: We'll see it's microstatic with a hemoglobin of 11.
06:10.799 --> 06:16.284
[SPEAKER_00]: And the TTG IGA returns significantly elevated at 500 units per milliliter.
06:17.005 --> 06:19.448
[SPEAKER_00]: And you did check the IGA level and that was normal.
06:20.068 --> 06:23.552
[SPEAKER_00]: So what is the next step in diagnosis for this patient?
06:24.140 --> 06:34.771
[SPEAKER_01]: Yeah, the next step is to proceed to an upper endoscopy and it's important that the patient remains on glue and so you can get the best sort of testing from biopsies and you want to take doodinal biopsies.
06:35.252 --> 06:43.060
[SPEAKER_01]: Multiple, we usually try to get at least thick and we want to get it both from the bowl, which is the first part of the doodinal as well as more from the distal doodinal.
06:43.120 --> 06:47.244
[SPEAKER_01]: And actually, see like preferably affects the more distal doodinal.
06:47.264 --> 06:53.691
[SPEAKER_01]: So we try to get more of our pieces from there and sort of look for things on pathology
06:54.245 --> 06:54.826
[SPEAKER_00]: Perfect set.
06:54.846 --> 06:58.191
[SPEAKER_00]: Yeah, that's such a good point about the biopsying approach.
06:58.471 --> 07:13.233
[SPEAKER_00]: And so one thing I do I know you do it as well as I indicate in my procedure report that I have obtained biopsies both from the dual null bulb and the more distal duodenum and like you said to get more from the distal duodenum because that's often where the celiac disease is presenting itself.
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[SPEAKER_00]: So all right.
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[SPEAKER_00]: So now some cases we will see these discordant results where the celiac serology is positive, but then the biopsies come back normal.
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[SPEAKER_00]: So in those situations, what's your approach?
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[SPEAKER_00]: What are you thinking are the possibilities?
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[SPEAKER_01]: Yeah, I think in those cases, you can either have a false positive of the TTG.
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[SPEAKER_01]: It's less likely, especially if the titers are high.
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[SPEAKER_01]: Or you more likely will get false negative biopsies because celiac is just so patient.
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[SPEAKER_01]: That's why we get so many biopsies from the dood.
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[SPEAKER_01]: No, I think this is an excellent sort of use case for the genetic testing of the HLA DQ2 and DQ8 similarly as before.
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[SPEAKER_01]: If it's negative, you can exclude celiac in these cases.
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[SPEAKER_01]: If it is positive, as it most likely will be, then you can perform more intensive gluten challenge.
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[SPEAKER_01]: Have them, you know, eat sort of three pieces of toast for about one to three months.
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[SPEAKER_01]: And then continue to eat that and then repeat the EGD after sort of about three months.
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[SPEAKER_01]: And sometimes you even need them on a gluten challenge for up to six or twelve months before repeating the EGD.
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[SPEAKER_00]: So that HLA DQ2 DQA testing again comes in very handy in this discordant result scenario.
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[SPEAKER_00]: All right.
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[SPEAKER_00]: So Sith, that was a great review.
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[SPEAKER_00]: Let's get back to our case.
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[SPEAKER_00]: So our patient undergoes an upper endoscopy while continuing to consume gluten.
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[SPEAKER_00]: The endoscist notes a scallop appearance of the Duanol mucosa, which is suggestive of celiac disease.
08:40.827 --> 09:01.910
[SPEAKER_00]: And then the biopsy's of the Duano bulb, and the second part of the Duano Maritained, you receive the pathology report that indicates that the biopsy's noted significant villous blunting and increased intraepothelial lymphocytes, which in combination with her significantly elevated TTG, IGA confirms her diagnosis of celiac disease.
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[SPEAKER_00]: With that said, can you conclude our episode today on their approach to diagnosis of celiac disease with some RTL pearls?
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[SPEAKER_01]: Absolutely.
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[SPEAKER_01]: I think, you know, the biggest thing is sort of when you think about celiac disease.
09:14.554 --> 09:22.465
[SPEAKER_01]: I think, for one, anytime you have a patient with iron deficiency, anemia, celiac disease should be something you screen for with surologies.
09:23.046 --> 09:25.569
[SPEAKER_01]: Other things can be sort of non-specific GI symptoms as well.
09:25.589 --> 09:34.902
[SPEAKER_01]: We often see people with bloating can present with celiac disease and then even sort of food sensitivities and even sort of diarrhea can also present as celiac disease.
09:34.922 --> 09:34.982
[SPEAKER_01]: So,
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[SPEAKER_01]: I'm just having a high suspicion and screening for with serologies as important.
09:40.190 --> 09:47.802
[SPEAKER_01]: And then in terms of work up, you want to send the TTG-IGA and anytime you're sending that, you want to send the total ideas well to screen Friday a deficiency.
09:47.983 --> 09:58.860
[SPEAKER_01]: And as prior, if there is ID a deficiency, then you want to use an IDG modality, either TTG, IDG, or you want to use the DM and the Glidden protein IDG.
09:58.840 --> 10:13.171
[SPEAKER_01]: And then if you just corn results where you have serology that's positive, biopsy-negative, or even sometimes you get biopsies of positive and the COX-erologies are negative, then you can use the HLA-DQ-2-DQ-A genetic testing to see.
10:13.732 --> 10:18.823
[SPEAKER_01]: If negative, it excludes COX disease, if positive, then you need to do more testing.
10:18.803 --> 10:31.596
[SPEAKER_01]: The biggest thing in sort of the thing that we see a very often action in GI clinics that is really important for the patients to continue on gluten until their diagnostic upper endoscopy, because that really increases the diagnostic yield of biopsies.
10:31.996 --> 10:32.617
[SPEAKER_00]: Thank you, Seth.
10:32.637 --> 10:33.838
[SPEAKER_00]: Those are awesome pearls.
10:33.898 --> 10:35.279
[SPEAKER_00]: I think you gave us one extra.
10:35.299 --> 10:37.241
[SPEAKER_00]: We usually do three and you gave us a bonus one.
10:37.261 --> 10:38.422
[SPEAKER_00]: So thank you for all that.
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[SPEAKER_00]: I had an awesome time discussing with you how to diagnose celiac disease and look forward to having you back to discuss the management of
10:48.858 --> 10:53.839
[SPEAKER_00]: Thanks so much Seth and to our RTL listeners, thank you for coming for another episode and we'll see you soon.
00:00.031 --> 00:01.312
[SPEAKER_00]: Welcome back to Run the List.
00:01.713 --> 00:07.780
[SPEAKER_00]: Today, we will be discussing another high yield topic for primary care and GI clinic, and that is celiac disease.
00:08.481 --> 00:12.826
[SPEAKER_00]: We are, again, so lucky to have Dr. Sith, Saker joining us as our expert.
00:13.326 --> 00:23.017
[SPEAKER_00]: Dr. Saker is a general guest or alges at the Brigham Women's Hospital, and soon to be gastroenterology hospitalist, who has a particular interest in medical education.
00:23.698 --> 00:29.565
[SPEAKER_01]: Sith, thank you so much for joining us today.
00:29.849 --> 00:32.292
[SPEAKER_01]: and to help teach about this very important topic today with you.
00:33.234 --> 00:34.215
[SPEAKER_00]: Same here, Sith.
00:34.295 --> 00:35.657
[SPEAKER_00]: Let's go ahead and run the list.
00:36.618 --> 00:38.501
[SPEAKER_00]: Let's set the stage in GI clinic.
00:38.942 --> 00:48.315
[SPEAKER_00]: You are seeing a 34-year-old healthy female with a history of iron deficiency inemia who is presenting with bloating, a change in her stool quality, and fatigue.
00:48.936 --> 00:55.705
[SPEAKER_00]: She recalls being told to start an iron supplement in the past, but that it did not improve her fatigue or her blood count.
00:56.461 --> 01:07.582
[SPEAKER_00]: Her family history is notable for Type 1 diabetes and her mother, and on exam, you know it's skin paler and a mildly-distant abdomen with hyperactive bowel sounds and slight tenderness in the upper abdomen.
01:08.724 --> 01:08.985
[SPEAKER_00]: SIF.
01:09.806 --> 01:15.938
[SPEAKER_00]: Given that case presentation, what differential diagnosis comes to mind and how would you approach the initial workup?
01:16.762 --> 01:21.207
[SPEAKER_01]: Yeah, I think the differential is pretty broad with this presentation.
01:21.287 --> 01:24.571
[SPEAKER_01]: I think the first thing that really comes to my mind would be celiac disease.
01:25.131 --> 01:27.113
[SPEAKER_01]: Couple things really sort of stand out to me.
01:27.173 --> 01:37.805
[SPEAKER_01]: I think dire deficiency in Nemia that's refractory to supplementation is one thing, the family history of the type one diabetes, which increases the risk of celiac disease.
01:38.566 --> 01:41.329
[SPEAKER_01]: And I think that, I'll be the number one thing that comes to my mind.
01:41.429 --> 01:45.233
[SPEAKER_01]: Other things to consider would be things like small intestinal bacterial or overgrowth.
01:45.213 --> 02:07.153
[SPEAKER_01]: inflammatory bowel disease, crones, all sort of cleatus could present like this, and then IBSD in general, but I think celiac is sort of at the top, especially with iron, especially when you think about three to five percent of patients with iron deficiency, and you may have celiac disease, and then the refractory don't oral supplementation, especially where celiac affects in the jaw, in the adenum, in the adenum, where iron is absorbed.
02:07.589 --> 02:17.852
[SPEAKER_01]: And then, you know, some basic work of I would get would be things like CBC, TSH, COXerologies, and then a fickle calprotective, especially to evaluate that change in our stool quality.
02:18.440 --> 02:20.142
[SPEAKER_00]: All right, so that's a great starting point.
02:20.222 --> 02:33.675
[SPEAKER_00]: I love the emphasis on the iron deficiency andemia that is not improving with PO iron supplementation, which suggests that there could be some issue with malibosorption, and that's kind of hinting to you that this could be celiac disease.
02:33.775 --> 02:37.219
[SPEAKER_00]: All right, so, SIF, you mentioned celiac surallegies.
02:37.299 --> 02:40.662
[SPEAKER_00]: Can you discuss specifically what surallegies you send?
02:40.682 --> 02:43.545
[SPEAKER_00]: I know we talk about them in general, but what do you specifically send?
02:43.585 --> 02:45.527
[SPEAKER_00]: And why are those the labs that you send?
02:45.760 --> 03:04.377
[SPEAKER_01]: Yeah, I think when we sensile accelerologies, the big one that we're looking at is TTG IGA that's sort of the most the best combination of sensitivity and specificity for celiac disease, the important thing to know about that is that you need to also check the IGA level as well and then.
03:04.424 --> 03:09.650
[SPEAKER_01]: Also need to ask if the patient is still taking glue in a lot of these patients by the time they get to you.
03:09.670 --> 03:13.795
[SPEAKER_01]: They try to do a different dietary modifications, including stopping gluten.
03:13.816 --> 03:18.842
[SPEAKER_01]: So it's really important to ask about if they're still consuming gluten, because that can really affect the testing.
03:19.563 --> 03:19.863
[SPEAKER_00]: Perfect.
03:19.883 --> 03:28.694
[SPEAKER_00]: I've also had the situation where a patient has gotten a positive celiac serology, and then they were advised to stop eating gluten right away.
03:28.734 --> 03:31.377
[SPEAKER_00]: And then by the time they get to GI clinic, as you mentioned,
03:31.694 --> 03:36.801
[SPEAKER_00]: we're left in this situation where they had a positive CLX or algae, but now they're on a gluten-free diet.
03:37.302 --> 03:40.787
[SPEAKER_00]: And so we'll talk about that in a bit what we need to do in that case.
03:40.867 --> 03:43.291
[SPEAKER_00]: But getting back to what you just discussed.
03:43.631 --> 03:56.990
[SPEAKER_00]: So what happens if you send the tissue, transgutaminase IgA level, along with the IgA level, and the IgA level comes back undetectable?
03:57.251 --> 03:58.292
[SPEAKER_00]: What do you do with that result?
03:58.694 --> 04:10.884
[SPEAKER_01]: Yeah, I think that's sort of, you know, why you send IJ because you want to make sure there's no IGA deficiency because if it comes back undetectable and there's deficiency then the TTG, IGA is not reliable at all.
04:10.964 --> 04:16.838
[SPEAKER_01]: And in that case, then you would use IGG trans tissue glutaminate instead.
04:16.818 --> 04:23.274
[SPEAKER_01]: Or you can use any other sort of IDG based test sort of like a deaminated glute in protein testing.
04:23.735 --> 04:29.910
[SPEAKER_01]: But when it comes back and there's IDA deficiency then you want to choose more of a route of an IDG testing for it.
04:30.090 --> 04:32.937
[SPEAKER_01]: That's sort of where I would go when it's an IDA deficiency.
04:33.187 --> 04:33.648
[SPEAKER_00]: it great.
04:33.668 --> 04:42.384
[SPEAKER_00]: So, nice teaching point there to always send the IGA level, the total IGA level with any TTG IGA CLI test.
04:42.985 --> 04:55.347
[SPEAKER_00]: And then getting back to the scenario in which a patient comes to you on a gluten-free diet, but at some point had an elevated TTG IGA or other CLIxorology.
04:55.327 --> 05:03.275
[SPEAKER_00]: So, how do you think about working up those patients who have already started gluten-free diet but had a positive celiacs or algae as part of their work up?
05:04.016 --> 05:15.447
[SPEAKER_01]: Yeah, I think the next test I really think about is sort of genetic testing and luckily we have some pretty good genes that we've mapped to celiac and that would be HLA DQ2 and DQ8.
05:15.968 --> 05:20.752
[SPEAKER_01]: These are sort of really helpful because if negative, they're very, very sensitive.
05:20.792 --> 05:24.456
[SPEAKER_01]: So, negative, you can exclude celiac in these cases.
05:24.436 --> 05:30.568
[SPEAKER_01]: If positive, it's not as helpful, you sort of still have to go down the pathway, but it being negative can exclude the celiac.
05:30.588 --> 05:43.272
[SPEAKER_01]: So if it is positive, and you're in that case where they've already started a gluten free diet, then we would ask, you know, just re-challenged gluten, which can be difficult for a patient for at least two weeks and then repeats for all of you.
05:43.640 --> 05:55.185
[SPEAKER_01]: Good challenge is sort of trying to eat about one to three pieces of bread a day for sort of those two weeks or four weeks before repeating Surologies or other testing including a doc which we will talk about coming up
05:55.823 --> 05:59.807
[SPEAKER_00]: So that was super helpful to review those situations as they do come up.
05:59.887 --> 06:01.369
[SPEAKER_00]: I have to say with some frequency.
06:02.009 --> 06:07.575
[SPEAKER_00]: All right, so let's say our patient is consuming gluten and the initial labs are notable for a mild and anemia.
06:07.655 --> 06:10.198
[SPEAKER_00]: We'll see it's microstatic with a hemoglobin of 11.
06:10.799 --> 06:16.284
[SPEAKER_00]: And the TTG IGA returns significantly elevated at 500 units per milliliter.
06:17.005 --> 06:19.448
[SPEAKER_00]: And you did check the IGA level and that was normal.
06:20.068 --> 06:23.552
[SPEAKER_00]: So what is the next step in diagnosis for this patient?
06:24.140 --> 06:34.771
[SPEAKER_01]: Yeah, the next step is to proceed to an upper endoscopy and it's important that the patient remains on glue and so you can get the best sort of testing from biopsies and you want to take doodinal biopsies.
06:35.252 --> 06:43.060
[SPEAKER_01]: Multiple, we usually try to get at least thick and we want to get it both from the bowl, which is the first part of the doodinal as well as more from the distal doodinal.
06:43.120 --> 06:47.244
[SPEAKER_01]: And actually, see like preferably affects the more distal doodinal.
06:47.264 --> 06:53.691
[SPEAKER_01]: So we try to get more of our pieces from there and sort of look for things on pathology
06:54.245 --> 06:54.826
[SPEAKER_00]: Perfect set.
06:54.846 --> 06:58.191
[SPEAKER_00]: Yeah, that's such a good point about the biopsying approach.
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[SPEAKER_00]: And so one thing I do I know you do it as well as I indicate in my procedure report that I have obtained biopsies both from the dual null bulb and the more distal duodenum and like you said to get more from the distal duodenum because that's often where the celiac disease is presenting itself.
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[SPEAKER_00]: So all right.
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[SPEAKER_00]: So now some cases we will see these discordant results where the celiac serology is positive, but then the biopsies come back normal.
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[SPEAKER_00]: So in those situations, what's your approach?
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[SPEAKER_00]: What are you thinking are the possibilities?
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[SPEAKER_01]: Yeah, I think in those cases, you can either have a false positive of the TTG.
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[SPEAKER_01]: It's less likely, especially if the titers are high.
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[SPEAKER_01]: Or you more likely will get false negative biopsies because celiac is just so patient.
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[SPEAKER_01]: That's why we get so many biopsies from the dood.
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[SPEAKER_01]: No, I think this is an excellent sort of use case for the genetic testing of the HLA DQ2 and DQ8 similarly as before.
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[SPEAKER_01]: If it's negative, you can exclude celiac in these cases.
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[SPEAKER_01]: If it is positive, as it most likely will be, then you can perform more intensive gluten challenge.
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[SPEAKER_01]: Have them, you know, eat sort of three pieces of toast for about one to three months.
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[SPEAKER_01]: And then continue to eat that and then repeat the EGD after sort of about three months.
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[SPEAKER_01]: And sometimes you even need them on a gluten challenge for up to six or twelve months before repeating the EGD.
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[SPEAKER_00]: So that HLA DQ2 DQA testing again comes in very handy in this discordant result scenario.
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[SPEAKER_00]: All right.
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[SPEAKER_00]: So Sith, that was a great review.
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[SPEAKER_00]: Let's get back to our case.
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[SPEAKER_00]: So our patient undergoes an upper endoscopy while continuing to consume gluten.
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[SPEAKER_00]: The endoscist notes a scallop appearance of the Duanol mucosa, which is suggestive of celiac disease.
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[SPEAKER_00]: And then the biopsy's of the Duano bulb, and the second part of the Duano Maritained, you receive the pathology report that indicates that the biopsy's noted significant villous blunting and increased intraepothelial lymphocytes, which in combination with her significantly elevated TTG, IGA confirms her diagnosis of celiac disease.
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[SPEAKER_00]: With that said, can you conclude our episode today on their approach to diagnosis of celiac disease with some RTL pearls?
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[SPEAKER_01]: Absolutely.
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[SPEAKER_01]: I think, you know, the biggest thing is sort of when you think about celiac disease.
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[SPEAKER_01]: I think, for one, anytime you have a patient with iron deficiency, anemia, celiac disease should be something you screen for with surologies.
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[SPEAKER_01]: Other things can be sort of non-specific GI symptoms as well.
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[SPEAKER_01]: We often see people with bloating can present with celiac disease and then even sort of food sensitivities and even sort of diarrhea can also present as celiac disease.
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[SPEAKER_01]: So,
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[SPEAKER_01]: I'm just having a high suspicion and screening for with serologies as important.
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[SPEAKER_01]: And then in terms of work up, you want to send the TTG-IGA and anytime you're sending that, you want to send the total ideas well to screen Friday a deficiency.
09:47.983 --> 09:58.860
[SPEAKER_01]: And as prior, if there is ID a deficiency, then you want to use an IDG modality, either TTG, IDG, or you want to use the DM and the Glidden protein IDG.
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[SPEAKER_01]: And then if you just corn results where you have serology that's positive, biopsy-negative, or even sometimes you get biopsies of positive and the COX-erologies are negative, then you can use the HLA-DQ-2-DQ-A genetic testing to see.
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[SPEAKER_01]: If negative, it excludes COX disease, if positive, then you need to do more testing.
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[SPEAKER_01]: The biggest thing in sort of the thing that we see a very often action in GI clinics that is really important for the patients to continue on gluten until their diagnostic upper endoscopy, because that really increases the diagnostic yield of biopsies.
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[SPEAKER_00]: Thank you, Seth.
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[SPEAKER_00]: Those are awesome pearls.
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[SPEAKER_00]: I think you gave us one extra.
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[SPEAKER_00]: We usually do three and you gave us a bonus one.
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[SPEAKER_00]: So thank you for all that.
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[SPEAKER_00]: I had an awesome time discussing with you how to diagnose celiac disease and look forward to having you back to discuss the management of
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[SPEAKER_00]: Thanks so much Seth and to our RTL listeners, thank you for coming for another episode and we'll see you soon.