Disaccharide deficient, confusing biopsy results, no blood test

[jenniber]

hi all,

i am new to this world, and have stumbled across this forum multiple times recently from google while researching Celiac Disease. my story:

i am a 37 F. I've had gastro disturbances since i was a young child. mainly nocturnal diarrhea, keeping a list of "unsafe" foods, and random stomachaches that put me down for the count for an entire day. for the past 5 years I've kept a record of my nocturnal diarrhea incidents, and i could not see a pattern. it would happen 3 times in a week, and then not happen for 6 months. over the summer it started to become more frequent, regularly being 2x a week. so i made an appointment with a GI (i had never been). she got me in rather quickly, and i told her my symptoms. she told me it was definitely good i came in and was really curious why i waited so long. truthfully, i dont know, i guess i figured they would tell me i had IBS and to just suffer with it and continue what i was doing (avoid unsafe foods, go low FODMAP, etc). I had my last nocturnal diarrhea incident around this time, but continued to have daytime diarrhea randomly. i did not go gluten-free at this time because i had no idea it could be Celiac Disease. i booked the endo and colonoscopy for 6 weeks later. she never order a blood test for Celiac screening. my stool sample came back negative for everything.

2 weeks ago i had an endoscopy and colonoscopy. when she came to see me after i came out of sedation, she said the colonoscopy was fine, but that she thinks i have Celiac Disease. this had never even occurred to me as a possibility so i was shocked. she said she sent out biopsy samples to pathology, and that she was testing me for Disaccharide Deficiency. i have the images from the scope, i have the classic "Scalloping" of Celiac diease.

Here are her findings: - The examined esophagus was normal.
- Mild inflammation was found in the stomach. Biopsies were taken with a cold forceps for histology.
- Inflammation characterized by congestion (edema) was found in the duodenal bulb. This was
biopsied with a cold forceps for histology and evaluation of disaccharidase deficiency

i stopped eating gluten the next day of my own will. a week later, she called me and told me that they did not find celiac in my pathology, but that my Sucrase and Lactase levels were very low, so she told me she is going to prescribe me Sucraid to assist with the sucrose intolerance, and to cut out dairy for the lactose intolerance. she said she was surprised at pathology because there was a lot of inflammation in my small intestine. i asked why there is so much information if it wasnt Celiac. she said she was going to ask pathology to re-test with different stains etc, but reiterated to start the Sucraid and cut out again. she did not mention anything about cutting out gluten. she said to make an appointment for a month from then to follow up with her.

i started eating gluten the next day (Thursday), but stopped dairy. on Saturday night i had nocturnal diarrhea (first time in about 7 weeks). the next day i felt awful, sluggish, fatigued. 

i guess i have a few questions. how is it possible that she thought the damage on my intestines was so bad that she called it to be Celiac, and then pathology did not report any Celiac finding? the pathology report did not say ANYTHING about villi being normal or abnormal, nor did it mention Celiac at all. 

should i order the LabCorp Celiac panel and just pay out of pocket since she did not?

based on my research, it seems like i am probably Disaccharide Deficient secondary to Celiac disease, true congenital Disaccharide Deficiency is really rare and should have presented earlier in my life. I'm willing to back off on dairy if there is the possibility its caused by Celiac, but shouldn't i go gluten-free ? 

should i just go gluten-free anyway or play along with how she wants me to do this? how important is getting a true diagnosis from her? i am concerned that 2 days after starting gluten again, i had a nighttime attack after not having one for weeks. 

Any help interpreting these results or advice i am totally grateful for. thanks so much.

 

Endoscopy Pathology results:

A. Duodenum, biopsy:

- Duodenal mucosa with mild-to-moderate active duodenitis.

B. Random gastric biopsy:

- Antral type gastric mucosa with mild chronic inactive gastritis.

- No Helicobacter pylori microorganisms are seen on H&E sections or with immunohistochemical staining.

C. Terminal ileum, biopsy:

- Terminal ileum mucosa with mild focal congestion and lymphoid aggregate.

D. Random colon biopsy:

- Colonic mucosa within normal limits.

- No evidence of microscopic colitis seen.

E. Rectosigmoid polyp x2, cold snare cold biopsy:

- Colonic mucosa with lymphoid aggregate and no adenomatous lesion seen, see comment.

 

DISACCHARIDASES

Lactase

Normal range: 13.00 - 105.00 umol/min/g prot

Value<6.69 Low

Sucrase

Normal range: 27.00 - 190.00 umol/min/g prot

Value<11.47 Low

Maltase

Normal range: 84.00 - 591.00 umol/min/g prot

NOTE: Inconclusive. Sample did not allow quantification.

Palatinase

Normal range: 4.00 - 67.00 umol/min/g prot

NOTE: Inconclusive. Sample did not allow quantification.

[trents]

Welcome to celiac.com, @jenniber!

This disaccharide deficiency is a new one for me but after researching it, it is a thing.

I am concerned that your GI doc skipped the normal protocol of first ordering blood tests for celiac disease and went straight to the scoping/biopsy. Since she, herself, initially believed you to have celiac disease and the scoping showed "scalloping" there is still a question in my mind about dismissing a celiac diagnosis. While it is true that the endoscopy/biopsy of the small bowel lining is considered the gold standard of celiac disease diagnosis, it is also true that the damage can be patchy and the lab analysis can be faulty. It is also true that diagnosis done from multiple angles is likely to yield more trustworthy results. My recommendation to you is that you go back to the GI doc and request celiac blood antibody testing be done, including a "total IGA" test to check for IGA deficiency. The endoscopy/biopsy constitutes one diagnostic opinion, the antibody testing offers another. Make sure you have been eating at least 10g of gluten daily before the blood draw, the amount of gluten found in about 4-6 slices of wheat bread or the equivalent, for several weeks. At the present time, all celiac disease diagnostic testing requires refraining from beginning the gluten free diet until after testing is complete. Otherwise, testing is invalidated. If your GI doc is not willing to cooperate in this matter, I would look for another doc or pursue private pay lab testing. Keep in mind that it is also possible you may have celiac disease as well as disaccharide deficiency. 

Edited December 15, 2025 by trents

[jenniber]

thank you for your recommendation, this is exactly the kind of advice i am looking for. i don't know why she skipped the blood test, maybe she didn't suspect it either until she got in there and saw the damage? i am going to call the office and request the blood test you suggested. i will continue eating gluten (i only went gluten-free for one week total) up until that test. that is true, i could definitely have both diagnoses. both of which were a complete surprise to me. 

[Scott Adams]

I agree with @trents, and encourage you to follow up with your doctor about getting a celiac disease blood test done.

This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.

 

 

[jenniber]

4 hours ago, Scott Adams said:

I agree with @trents, and encourage you to follow up with your doctor about getting a celiac disease blood test done.

This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.

 

 

thank you Scott! This is very helpful. I have a message out to my doctor and i think this guide will help me interpret the results! its very thorough. 

[Scott Adams]

Let us know how things turn out--good luck!

[jenniber]

On 12/15/2025 at 5:16 PM, Scott Adams said:

Let us know how things turn out--good luck!

hi, i want to say thank you to you and @trents   . after 2 phone calls to my GI, her office called me back to tell me that a blood test was “unnecessary” and that we should “follow the gold standard” and since my biopsy did not indicate celiac, to follow the no dairy and sucraid diet. i luckily have expendable income and made an appt for the labcorp blood test that day. i just got my results back and it indicates celiac disease i think 😭

 

im honestly happy bc now i KNOW and i can go gluten free. and i am SO MAD at this doctor for dismissing me for a simple blood test that wouldn’t have cost her anything !!!!!!!!!!! im sorry, im so emotional right now, i have been sick my whole life and never knew why, i feel so much better already

 

my results from labcorp:

 

Celiac Ab tTG TIgA w/Rflx

Test Current Result and Flag Previous Result and Date Units Reference Interval

t-Transglutaminase (tTG)

IgA 01 28

High U/mL 0-3

Negative 0 - 3

Weak Positive 4 - 10

Positive >10

Tissue Transglutaminase (tTG) has been identified as the endomysial antigen. Studies have demonstrated that endomysial IgA antibodies have over 99%

specificity for gluten sensitive enteropathy.

Immunoglobulin A, Qn,

Serum 01 245 mg/dL 87-352

[trents]

So the tTG-IGA at 28 is positive for celiac disease. There are some other medical conditions that can cause elevated tTG-IGA but this is unlikely. There are some people for whom the dairy protein casein can cause this but by far the most likely cause is celiac disease. Especially when your small bowel lining is "scalloped".

Your Serum IGA 01 (aka, "total IGA") at 245 mg/dl is within normal range, indicating you are not IGA deficient. But I also think it would be wise to take your doctor's advice about the sucraid diet and avoiding dairy . . . at least until you experience healing and your gut has had a chance to heal, which can take around two years. After that, you can experiment with adding dairy back in and monitor symptoms. By the way, if you want the protein afforded by dairy but need to avoid casein, you can do so with whey protein powder. Whey is the other major protein in dairy.

[Scott Adams]

If your tTg-IgA was 28 and positive is at 3, you are nearly 10x over the positive marker, so the most likely explanation by far would be celiac disease. I also do not understand why your doctor would not want to run the blood test, which is the normal first step in the diagnosis process.

[jenniber]

thank you both for the insights. i agree, im going to back off on dairy and try sucraid. thanks for the tip about protein powder, i will look for whey protein powder/drinks!

 

i don’t understand why my doctor refused to order it either. so i’ve decided i’m not going to her again, and i’m going to get a second opinion with a GI recommended to me by someone with celiac. unfortunately my first appointment isn’t until February 17th. do you think i should go gluten free now or wait until after i meet with the new doctor? i’m torn about what i should do, i dont know if she is going to want to repeat the endoscopy, and i know ill have to be eating gluten to have a positive biopsy. i could always do the gluten challenge on the other hand if she does want to repeat the biopsy. 

 

thanks again, i appreciate the support here. i’ve learned a lot from these boards. i dont know anyone in real life with celiac.

[trents]

I think it is wise to seek a second opinion from a GI doc and to go on a gluten free diet in the meantime. The GI doc may look at all the evidence, including the biopsy report, and conclude you don't need anything else to reach a dx of celiac disease and so, there would be no need for a gluten challenge. But if the GI doc does want to do more testing, you can worry about the gluten challenge at that time. But between now and the time of the appointment, if your symptoms improve on a gluten free diet, that is more evidence.

Just keep in mind that if a gluten challenge is called for, the bare minimum challenge length is two weeks of the daily consumption of at least 10g of gluten, which is about the amount found in 4-6 slices of wheat bread. But, I would count on giving it four weeks to be sure.

[jenniber]

Hi, I'm back! I went to a new GI with all of my test results and an explanation of my story! She was very curious why my initial GI did not note about suspected Celiac disease in her endoscopy notes, and why my biopsies did not mention my villi or anything about Celiac disease. She requested my biopsies from the hospital where my endoscopy was completed to have her own lab look at them. my new dr called me this morning, and said my biopsies indicate Celiac disease! obviously to keep following a gluten free diet (which has been OK, its a lot easier to do at home than out at a restaurant). she ordered a bunch of nutritional blood tests for me to get right before my follow up in 2 months and another celiac panel to compare it to my original. 

Its a relief and honestly am so happy I advocated for myself!! 

My initial GI has called me a few times and left messages saying her office may have "miscommunicated" with me, but i haven't called her back because i just don't want to speak with her. I felt totally dismissed at the time and I have a right to not see her as my doctor any longer.

Thanks so much for your support here and giving me helpful advice on the next steps I was able to take!! I have had very few symptoms or nighttime attacks, even without taking the Sucraid and without eliminating dairy. My brother who is a Type 1 diabetic has also gone gluten free and has seen a MASSIVE improvement in his symptoms so he thinks he also has celiac disease. I pressed him to get the blood test at the very least, but he doesn't have insurance so he is unable to get tests right now but he said he is just happy to feel better and isn't as worried about an official diagnosis. 

[Scott Adams]

Wow, so the first GI diagnosed you with celiac disease, but never mentioned it to you? That is terrible, but it's great that you finally got an answer!

[trents]

@jenniber, it would be pointless for your brother to get tested for celiac disease if he has already gone gluten free. Doing so invalidates the testing. He would need to undergo a "gluten challenge". That is, he would need to go back to consuming generous amounts of gluten (at least 10g daily, or the amount found in about 4-6 slices of wheat-based bread) for several weeks leading up to the day of the blood draw.

[jenniber]

yes, i told my brother that, but he’s fine with never getting an official diagnosis he says! he doesn’t often take my advice LOL

[trents]

44 minutes ago, jenniber said:

yes, i told my brother that, but he’s fine with never getting an official diagnosis he says! he doesn’t often take my advice LOL

Typical, I suppose. 

[Aretaeus Cappadocia]

18 hours ago, jenniber said:

yes, i told my brother that, but he’s fine with never getting an official diagnosis he says! he doesn’t often take my advice LOL

If you or your brother have children, they should be informed about all of this because they would have an increased risk for celiac themselves. I imagine you would have told your children (if you have any) but your brother might be inclined to dismiss it.

[knitty kitty]

 

@jenniber,

Your brother can get a genetic test to look for Celiac genes.  You don't need to eat gluten for a genetic test.  

Diabetes is an autoimmune disease that is associated with Celiac Disease.   Thiamine B1 insufficiency is frequently found Diabetes. 

I have Diabetes and Celiac myself.  Supplementing with essential vitamins and minerals is helpful to ensure our bodies get the nutrients needed to heal and repair damage from gluten, as well as deal with Diabetes.  I take Benfotiamine, A form of thiamine Vitamin B 1, that has been shown to promote intestinal healing, and improves Diabetes.

Thiamine, Niacin B 3, Pyridoxine B 6, and the other essential vitamins will help your body make digestive enzymes such as Sucrase and Lactase in the stomach,  pancreas and digestive system.  (Disaccharidase deficiency, my foot!)

Clinical trial: B vitamins improve health in patients with coeliac disease living on a gluten-free diet

https://pubmed.ncbi.nlm.nih.gov/19154566/

[jenniber]

7 hours ago, Aretaeus Cappadocia said:

If you or your brother have children, they should be informed about all of this because they would have an increased risk for celiac themselves. I imagine you would have told your children (if you have any) but your brother might be inclined to dismiss it.

neither of us have children or plan on it, so we’re good there! 

[jenniber]

11 minutes ago, knitty kitty said:

 

@jenniber,

Your brother can get a genetic test to look for Celiac genes.  You don't need to eat gluten for a genetic test.  

Diabetes is an autoimmune disease that is associated with Celiac Disease.   Thiamine B1 insufficiency is frequently found Diabetes. 

I have Diabetes and Celiac myself.  Supplementing with essential vitamins and minerals is helpful to ensure our bodies get the nutrients needed to heal and repair damage from gluten, as well as deal with Diabetes.  I take Benfotiamine, A form of thiamine Vitamin B 1, that has been shown to promote intestinal healing, and improves Diabetes.

Thiamine, Niacin B 3, Pyridoxine B 6, and the other essential vitamins will help your body make digestive enzymes such as Sucrase and Lactase in the stomach,  pancreas and digestive system.  (Disaccharidase deficiency, my foot!)

Clinical trial: B vitamins improve health in patients with coeliac disease living on a gluten-free diet

https://pubmed.ncbi.nlm.nih.gov/19154566/

yep, as soon as i suspected i had celiac i called him to tell him he’s way more likely to have it bc he’s my sibling + bc of t1d being autoimmune. he has been to the ER so many times bc of unexplained stomach pain, so fingers crossed gluten free continues to help him!

thank you for the info about the vitamins, i will pass along the info!!

[knitty kitty]

Unexplained abdominal pain can be caused by insufficient Thiamine in the gastrointestinal tract, called Gastrointestinal Beriberi.  I used to get that, especially after a high carbohydrate meal.  Doctors miss it easily.  Once I started Thiamine/Benfotiamine supplements, symptoms improved quickly.  Tell your brother to ask for an Erythrocyte Transketolace Activity Assay (a better test for Thiamine deficiency than blood tests) if he goes to the ER with that again. 

The Autoimmune Protocol Diet made a HUGE difference for me and my poly autoimmune diseases.  Highly recommended.

Autoimmune protocol diet: A personalized elimination diet for patients with autoimmune diseases

https://pmc.ncbi.nlm.nih.gov/articles/PMC11755016/

Edited March 13 by knitty kitty
Typo correction

[jenniber]

On 3/13/2026 at 4:27 PM, knitty kitty said:

Unexplained abdominal pain can be caused by insufficient Thiamine in the gastrointestinal tract, called Gastrointestinal Beriberi.  I used to get that, especially after a high carbohydrate meal.  Doctors miss it easily.  Once I started Thiamine/Benfotiamine supplements, symptoms improved quickly.  Tell your brother to ask for an Erythrocyte Transketolace Activity Assay (a better test for Thiamine deficiency than blood tests) if he goes to the ER with that again. 

The Autoimmune Protocol Diet made a HUGE difference for me and my poly autoimmune diseases.  Highly recommended.

Autoimmune protocol diet: A personalized elimination diet for patients with autoimmune diseases

https://pmc.ncbi.nlm.nih.gov/articles/PMC11755016/

thank you for that info too!! will keep this in mind if he ends up in the ER again!