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 Monday at 05:32 PM 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!