I’m not sure what is going on

[pawbearbear]

So we thought i was. Lose to a doagnosis. Ive had lifelong issues since i was a kid- short stature, failure to thrive, dental issues, abdominal pain. The abdominal pain has only worsened since, coupled with GI issues, menstrual issues, rashes, etc... Basically all “classic”celiac symptoms. I also tested positive for half of DQ2 but negative for all other antibody tests for celiac. However, my biopsies did show villous atrophy. But i had already been gluten free for a while before all the testing (at least two months) My specialist however, is adamant that with just the HLA-DQA1*05 being positive (minimal risk she said of developing celiac- 0.05% but other figures say up to 5%)   and the villous atrophy not showing classic lymphocytes, that there was no way i could have celiac. There was no further explanation of why the intestinal damage is there since no other options for villous atrophy were plausible. I don’t know what to do because after any gluten, i feel like crap but what other explanation could there be? Anyone else have trouble getting an accurate diagnosis? 

[trents]

Welcome to the forum, pawbearbear!

Ambiguity with regard to diagnosis has a constant presence on this forum with regard to new forum participants. You are certainly not alone. Often it is due to physicians failing to explain to their patients being tested for celaic disease that it is necessary to be consuming regular amounts of gluten for weeks to months leading up to testing.

There are a few other diseases and some medications that can cause villous atrophy. Google: "What besides celiac disease can cause villous atrophy?"

Can you list the specifics tests and their scores (along with reference ranges) that were done?

How long were you gluten free before testing was started? Certainly, your symptoms point to either celiac disease or NCGS (Non Celiac Gluten Sensitivity). Can you describe the rash? There is a skin rash known as DH (dermatitis herpetiformis) that is definitive for celiac disease. Does you rash have blisters?

What kind of "specialist" are you seeing?

[Scott Adams]

It seems odd to me that your "specialist" it trying to talk you out of what seems to be 1) classic celiac symptoms; 2) you carry a gene that give you a 5% chance of having celiac disease; 3) you had villous atrophy consistent with celiac disease even after 2 months on a gluten-free diet; and 4) you feel better when you don't eat gluten, and poorly when you do.

What does your specialist not understand here? To me it seems clear that you probably have celiac disease and should be 100% gluten-free.

[pawbearbear]

  On 8/24/2022 at 5:14 PM, trents said:

Welcome to the forum, pawbearbear!

Ambiguity with regard to diagnosis has a constant presence on this forum with regard to new forum participants. You are certainly not alone. Often it is due to physicians failing to explain to their patients being tested for celaic disease that it is necessary to be consuming regular amounts of gluten for weeks to months leading up to testing.

There are a few other diseases and some medications that can cause villous atrophy. Google: "What besides celiac disease can cause villous atrophy?"

Can you list the specifics tests and their scores (along with reference ranges) that were done?

How long were you gluten free before testing was started? Certainly, your symptoms point to either celiac disease or NCGS (Non Celiac Gluten Sensitivity). Can you describe the rash? There is a skin rash known as DH (dermatitis herpetiformis) that is definitive for celiac disease. Does you rash have blisters?

What kind of "specialist" are you seeing?

Expand Quote  

Hi,
Pardon the typos in the initial post. 

Sure: i completely understand as there seems to be varied understanding  on this condition as it is with so many autoimmune diseases. I appreciate you all existing to clarify things.  The rash almost looks like keratosis pilaris but i do get blisters. It used fo be very itchy at the height of my gluten consumption. Now i just have scars. The specialist is a GI specialist. I did see that most of the VA conditions are  not any that he thought i had. But that leaves me with no diagnosis as to what caused the atrophy. 

 

I had not been consuming gluten regularly prior to testing for months. Maybe a piece of toast or donut which made my stomach hurt almost instantly...once a month. 

 

Test Results:

HLA Typing: Negative for DQ8 but positive for half of DQ2.

Final Results:
DQA1*05:DWNMN,-
DQB1*03:DWDXF,-
Code Translation:
DWDXF 03:01/03:10/03:16/03:19/03:21/03:22/03:24
/03:27/03:28/03:29/03:35/03:36/03:42/03:44
/03:46/03:47/03:48/03:49/03:50/03:51/03:52
/03:53/03:54/03:55/03:56/03:57/03:58/03:59
/03:60/03:69/03:73/03:75/03:76/03:77/03:78
/03:82/03:83/03:84N/03:92/03:93/03:94
/03:101/03:102/03:103/03:108/03:109/03:114
/03:115/03:116/03:118N/03:119/03:120
/03:121/03:122/03:127/03:128/03:129/03:130
/03:131/03:133/03:134/03:135/03:139/03:140
/03:142/03:143/03:144/03:147/03:148/03:151
/03:152/03:154/03:157/03:158/03:159/03:160
/03:162/03:163/03:164/03:165/03:166/03:167
/03:169/03:170/03:171/03:173/03:182/03:183
/03:186/03:188/03:191/03:192/03:193/03:196
/03:197Q/03
:198/03:201/03:202/03:206
/03:207/03:208/03:216/03:218/03:219/03:231
/03:232/03:235/03:236/03:241/03:242/03:243
/03:246/03:252/03:253/03:254/03:255/03:257
/03:260/03:264/03:266/03:267/03:268/03:271
/03:275/03:276N/03:281/03:284/03:285
/03:288/03:290/03:291/03:292/03:293/03:294
/03:297/03:302/03:303N/03:305/03:306
/03:307/03:309/03:311/03:312/03:314/03:317
/03:326/03:328/03:329/03:330/03:331
/03:338N/03:340N/03:341/03:342/03:347
/03:350/03:353/03:354N/03:358N/03:361
/03:366/03:370/03:372/03:373/03:377/03:378
/03:380/03:385N/03:387/03:389/03:390
/03:391/03:394/03:396/03:399N/03:400N
/03:404/03:407N/03:408/03:417/03:418
/03:419/03:420/03:421/03:423/03:424/03:425
/03:426/03:427N/03:428/03:
430/03:431
/03:432/03:434/03:435/03:436/03:438/03:439
/03:448/03:449/03:451/03:454/03:455/03:458
/03:460/03:465
DWNMN 05:05/05:09/05:11/05:12/05:13/05:14/05:16
/05:17N/05:20/05:24/05:25/05:26/05:28
/05:29Q/05:30/05:32/05:34/05:37/05:39
/05:42/05:43/05:44/05:45
The patient is positive for DQA1*05, one half of the DQ2
heterodimer. The Celiac Disease risk from the HLA DQA/DQB
genotype is approximately 1:1842 (0.05%). 

 

 

Celiac panel: no numbers 

Transglutaminase Antibod...[754319199] Normal Final result  
Gliadin (deamidated pept...[754319200] Normal Final result  
IgA, Serum[754319201] Normal Final result  
Endomysium IgA Antibody ...[754319202] Normal Final result  
 

Other: 

Iron: Your Value34 ug/dLStandard Range50 - 170 ug/dL Flag L

Iron % Saturation Your Value 11 % Standard Range 20 - 55 % Flag L

Transferrin Your Value 255 mg/dL Standard Range 200 - 400 mg/dL

Total Iron Binding Cap Your Value 319 mcg/dL Standard Range 250 - 450 mcg/dL

 

Erythrocyte Sed Rate Your Value 44 mm/hr Standard Range 4 - 25 mm/hr Flag H

 

Vitamin D (25-OH) Total, Ser Your Value 15 ng/mLStandard Range 30 - 100 ng/mLFlag L

 

Calprotectin, Stool Your Value 66 mcg/g Standard Range mcg/g

Reference Range:
<50 Normal
50-120 Borderline
>120 Elevated

Vitamin B12 Your Value 557 pg/mL Standard Range 232 - 1,245 pg/mL

Folate Your Value 5.3 ng/mL Standard Range>4.7 ng/mL

 

Transglutaminase IgA, SerumYour Value2.5 Arbitrary UnitsStandard Range<20.0 Arbitrary Units

Transglutaminase IgG, SerumYour Value<3.8 Arbitrary UnitsStandard Range<20.0 Arbitrary Units

Gliadin (deamidated peptides) IgA, SerumYour Value<5.2 Arbitrary UnitsStandard Range<20.0 Arbitrary Units

Gliadin (deamidated peptides) IgG, SerumYour Value<2.8 Arbitrary UnitsStandard Range<20.0 Arbitrary Units

IgA, SerumYour Value271 mg/dLStandard Range61 - 348 mg/dL

 

Endomysium IgA Antibody Screen, SerumYour ValueAntibodies not presentStandard RangeAntibodies not present

 

 

[pawbearbear]

  On 8/24/2022 at 5:31 PM, Scott Adams said:

It seems odd to me that your "specialist" it trying to talk you out of what seems to be 1) classic celiac symptoms; 2) you carry a gene that give you a 5% chance of having celiac disease; 3) you had villous atrophy consistent with celiac disease even after 2 months on a gluten-free diet; and 4) you feel better when you don't eat gluten, and poorly when you do.

What does your specialist not understand here? To me it seems clear that you probably have celiac disease and should be 100% gluten-free.

Expand Quote  

Agreed. I will seek out another specialist. Perhaps there will be some luck in a better way forward. I guess i should go on a glutening but it hurts so much to the point of causing not only abdominal cramps but leg cramps and what my neurologist says is peripheral neuropathy (can’t be from being diabetic since that has always been well controlled).

[Scott Adams]

The blood test are not reliable unless you were eating gluten, at least 2 slices of wheat bread worth per day, for 6-8 weeks before the test. If you want to be retested this is what you would need to do. Or, you could just go gluten-free now and save yourself the suffering.

[trents]

There are signs of mild anemia in your bloodwork and some inflammation going on somewhere (Erythrocyte Sed Rate is high). But like Scott said, sounds like you can't put much stock in the celiac antibody scores themselves because of low gluten consumption.

[pawbearbear]

  On 8/24/2022 at 10:49 PM, Scott Adams said:

The blood test are not reliable unless you were eating gluten, at least 2 slices of wheat bread worth per day, for 6-8 weeks before the test. If you want to be retested this is what you would need to do. Or, you could just go gluten-free now and save yourself the suffering.

Expand Quote  

Thanks Scott! I’d rather save myself the sufferring. I ate out today and had an accidental glutening, can’t see myself going through weeks of that pain. Hopefully another doc will look at the biopsy results and make an accurate assessment without too much trouble. Thanks again for the input.

[pawbearbear]

  On 8/24/2022 at 11:21 PM, trents said:

There are signs of mild anemia in your bloodwork and some inflammation going on somewhere (Erythrocyte Sed Rate is high). But like Scott said, sounds like you can't put much stock in the celiac antibody scores themselves because of low gluten consumption.

Expand Quote  

Thanks Trents! They did find some inflammation in almost everything biopsied but not much explanation was given for that either. Thanks for your help!

[knitty kitty]

@pawbearbear,

Are you type two diabetic?  How do you control your blood glucose?

[pawbearbear]

T 1 and insulin 

[knitty kitty]

I'm Type Two.  I've done some research into diabetes and Celiac.  

Diabetics of both types are usually deficient in Thiamine Vitamin B1.  Seems our kidneys excrete more thiamine than nondiabetics.  

So I take Benfotiamine, a form of thiamine shown to help with Diabetes.  

I follow the Autoimmune Protocol Diet, too.