Doc Wants Endoscopy With Negative Serology/gene Test

[Mereloo]

Hi all,

 

Finally got my results back from the lab.  All my test results are negative, and I don't have the HLA-DQ2 or HLA-DQ8 genes (LabCorp, so I think they checked all parts). Yeah! However, the doc wants to do an upper endoscopy anyhow.    Why do you think he still ordered the test? (You can stop here if the rest is TL:DR.)

 

Thanks for your help!

 

____________________

 

***More detail here***

 

I was diagnosed with IgA deficiency as a child. (My level was only 5 then!) My level is now at 36, still well below the reference range, which starts at 91 but no longer technically deficient. The doc also tested the Ttg IgG because I already knew about the IgA deficiency. I'm adopted, so my family history is mostly a mystery, but my biological mom and some thyroid thing (don't know if it was autoimmune or not), and my maternal biological grandma had lupus.

 

So I know that you can be at risk for other things with the IgA deficiency, but most of my gastro symptoms actually occur around my cycle; and I doubt my issues are serious enough for that. Main gastro symptoms are reflux (positional and not connected to cycle), gas (all the time but much worse around my cycle), bloating, and occasional mucus in the stool (sorry, gross!). I'm also lactose intolerant though, so it could be that maybe?

 

I also have depression and ADHD, and I guess I was hoping for a "magic cure" by giving up gluten. (sigh) Yes, I made sure to keep eating gluten before the test and have never tried cutting it out. No such luck, though may look into cutting out FODMAPS.

 

My question is, with the negative serology and negative gene test, there's no way I could have celiac, right? I know that IgA deficiency can raise the risk for other gut issues (giardiasis and Crohn's, not sure about UC); but does that seem excessive to anybody? Or is there a chance that I could still have celiac without the genes? I know it's a minute chance (1 to 2,000-something according to the labs). Just curious why the doc might be ordering this test because I really don't want to go through all of that if I don't have to.

 

I also saw this thread below about someone with a positive biopsy, negative serology, and a one of the people commenting said she had the celiac without that gene as well:

 

https://www.celiac.com/forums/topic/86215-positive-biopsy-but-negative-genetics/

 

Thanks again!

[nvsmom]

Doctors estimate that about 97% of celiacs have the DQ2 or DQ8 genes, which means about 3% do not.  It appears to be possible to have celiac disease without those genes, but it is very uncommon.

 

Was your only test the tTG IgG?  I ask because it is not a very sensitive test for celiac disease.  Its sensitivity is about 40%; it can miss 60% of all celiacs.  If possible, do not rely on that one test to rule out celiac disease because you may have a false negative.  Try to get the DGP IgG done.  Possibly the EMA IgG and the AGA IgG (if the DGP IgG was unavailable.

 

If you strongly suspect celiac disease, you may want to consider the biopsy.  With negative genetics, it is not likely that you have it, but it could be possible... 3% chance, I guess.

 

It could also be non-celiac gluten sensitivity (NCGS) for which there are no tests.  NCGS can feel every bit as awful as celiac disease, so a gluten-free trial of 6 months or so may be something to consider.

 

Best wishes.

[ravenwoodglass]

The endo is a pretty easy test as far as invasive procedures go. If your doctor is wise enough to still want to rule out celiac IMHO it would be a good idea to have it done along with the other tests that Nicole posted. Hope you get some answers soon. Do give the diet a good strict try after all testing is finished but don't go gluten free or gluten light until after the day the endo is done.

[Mereloo]

Got a call from the office today, and he is doing biopsies. Sounds like I've found a good doc. :-) Thanks, everyone.

Will definitely stay on gluten until the test and maybe even try to get some whole wheat to be sure I don't get a false negative. Because there are some days that I'm unintentionally gluten light (because I like potatoes and rice), I'll make sure I get enough gluten on those days too. I'll try to think of all the gluten-containing foods that I love and eat them now in case I can't later.

[ravenwoodglass]

Good plan. Have something with phyllo for me. Just don't tell me how good it was. 

[Mereloo]

Will do! Forgot to consider that particular yummy option. Spanakopita here I come!

[Mereloo]

Also, just a follow up, if deaminated = DMA and endomysial = EMA, then those were tested along with the tTG, and all were negative. Posting all results below just for your reference:

DQ2 (DQA1 0501/0505,DQB1 02XX) Negative - - - Final 2Q

DQ8 (DQA1 03XX, DQB1 0302) Negative - - - Final 2Q

Final Results:

DQA1*01:SXYS,02:01

DQB1*03:ABXBW,05:ABUXH

Code Translation:

ABXBW 03:03/03:31/03:33/03:34/03:39/03:86/03:87

/03:88/03:89/03:91Q/03:96/03:97/03:98

/03:99Q

SXYS 01/04/05/12

ABUXH 01/12/18/27/30/31/32/44/45

The patient is not positive for any of the HLA DQ risk

alleles. Celiac Disease risk from the HLA DQA/DQB

genotype is approximately 1:2518 (<0.04%).

Allele interpretation for all loci based on IMGT/HLA

database version 3.11

HLA Lab CLIA ID Number 34D0954530

Greater than 95% of celiac patients are positive for either DQ2 or DQ8

(Sollid and Thorsby, (1993) Gastroenterology 105:910-922). However

these antigens may also be present in patients who do not have Celiac

disease.

Antigliadin Abs, IgA - 05/12/2015 08:11 - Result Status: Final

Deamidated Gliadin Abs, IgA 1 - units 0-19 Final RN

Negative 0 - 19

Weak Positive 20 - 30

Moderate to Strong Positive >30

Antigliadin Abs, IgG - 05/12/2015 08:11 - Result Status: Final

Deamidated Gliadin Abs, IgG 3 - units 0-19 Final RN

Negative 0 - 19

Weak Positive 20 - 30

Moderate to Strong Positive >30

t-Transglutaminase (tTG) IgA - 05/12/2015 08:11 - Result Status: Final

t-Transglutaminase (tTG) IgA <2 - U/mL 0-3 Final RN

Negative 0 - 3

Weak Positive 4 - 10

Positive >10

.

Tissue Transglutaminase (tTG) has been identified

as the endomysial antigen. Studies have demonstr-

ated that endomysial IgA antibodies have over 99%

specificity for gluten sensitive enteropathy.

t-Transglutaminase (tTG) IgG - 05/12/2015 08:11 - Result Status: Final

t-Transglutaminase (tTG) IgG 2 - U/mL 0-5 Final RN

Negative 0 - 5

Weak Positive 6 - 9

Positive >9

Endomysial Antibody IgA - 05/12/2015 08:11 - Result Status: Final

Endomysial Antibody IgA Negative - - Negative Final RN

Immunoglobulin A, Qn, Serum - 05/12/2015 08:11 - Result Status: Final

Immunoglobulin A, Qn, Serum - 36 *Low* mg/dL 91-414 Final RN

[Mereloo]

Just got the pathology report back. Everything is negative, but I'm a little confused at how many samples were taken. It also looks like intraepithelial lymphocytes weren't tested, but maybe they only do that if there's a lesion? Doc said he took six samples each from three sites; but it looks like two to me, though I could be very confused. I'm not adept at reading these reports. On at least one of them, it looks like he took four samples instead of six, when I had specifically asked for six, grrr! I'm posting results below the rest of the post if anyone has an easier time reading them.

 

Anyhow, haven't tried going gluten free yet to see if I have non-celiac gluten sensitivity, but may try to go gluten-light and not eat it except for mom's meals and make sure to give it a try when I get around to moving out. FODMAP diet looks overly restrictive and complicated in comparison, so I'd rather try gluten free first.

 

Gastric symptoms have been better except for some constipation, so that's good. But my allergies are going insane, my eyes have been watering for over a week causing a rash on my eyelids, and I have a weird dotted (but not itchy so probably not DH?) on my abdomen that has been coming off and on for a few months. We'll see what happens when I get around to trying dietary stuff. Maybe I'm just anxious and a hypochondriac. I'd like to think I can accept evidence when I see it though. Accepting that I do not have celiac disease. I have not ruled out non-celiac gluten sensitivity or IBS (though a big part of me doubts the existence of the former...)

 

Results below:

 

I UPPER EGD HISOLOGY - SPECM 1 JAR(S): 2 Note - - - Final 01 REPORT TITLE: DIAGNOSTIC REPORT   RESULTS:   CASE CLINICAL INFORMATION: SUSPECTED CELIAC DISEASE. SELECTIVE IGA DEFICIENCY   SYNOPSIS: Specimen 1: Upper GI Biopsy, Duodenum, Third Part   DUODENAL MUCOSA WITH NO DIAGNOSTIC ABNORMALITIES. NO EVIDENCE OF CELIAC DISEASE. NEGATIVE FOR GIARDIA, OTHER PARASITES OR OTHER PATHOGENIC ORGANISMS. NEGATIVE FOR HELICOBACTER PYLORI. NEGATIVE FOR DYSPLASIA OR MALIGNANCY. Specimen 2: Upper GI Biopsy, Duodenum, Second Part DUODENAL MUCOSA WITH NO DIAGNOSTIC ABNORMALITIES. NO EVIDENCE OF CELIAC DISEASE. NEGATIVE FOR GIARDIA, OTHER PARASITES OR OTHER PATHOGENIC ORGANISMS. NEGATIVE FOR HELICOBACTER PYLORI. NEGATIVE FOR DYSPLASIA OR MALIGNANCY.     SPECIMEN SOURCE-1: Upper GI Biopsy, Duodenum, Third Part   DIAGNOSIS-1: DUODENAL MUCOSA WITH NO DIAGNOSTIC ABNORMALITIES. NO EVIDENCE OF CELIAC DISEASE. NEGATIVE FOR GIARDIA, OTHER PARASITES OR OTHER PATHOGENIC ORGANISMS. NEGATIVE FOR HELICOBACTER PYLORI. NEGATIVE FOR DYSPLASIA OR MALIGNANCY.   SPECIMEN SOURCE-2: Upper GI Biopsy, Duodenum, Second Part   DIAGNOSIS-2: DUODENAL MUCOSA WITH NO DIAGNOSTIC ABNORMALITIES. NO EVIDENCE OF CELIAC DISEASE. NEGATIVE FOR GIARDIA, OTHER PARASITES OR OTHER PATHOGENIC ORGANISMS. NEGATIVE FOR HELICOBACTER PYLORI. NEGATIVE FOR DYSPLASIA OR MALIGNANCY.   GROSS DESCRIPTION-1: Received in formalin are 4 fragments of tan, soft tissue measuring 0.4 x 0.1 x 0.1 cm to 0.2 x 0.1 x 0.1 cm and submitted in toto in 1 cassette. Specimen may further fragment with processing.   MICROSCOPIC DESCRIPTION-1: Duodenal mucosa shows preserved villous architecture and normal cellularity of the lamina propria. Brunner glands are identified. No gastric metaplasia is seen. No dysplasia or malignancy is identified. There are no viral inclusions. No Giardia, other parasites or other pathogenic organisms are seen. No Helicobacter pylori organisms are identified.   CPT CODES-1: 88305   GROSS DESCRIPTION-2: Received in formalin are multiple fragments of tan, soft tissue measuring 0.2 x 0.2 x 0.1 cm to 0.2 x 0.2 x 0.1 cm and submitted in toto in 1 cassette. Specimen may further fragment with processing.   MICROSCOPIC DESCRIPTION-2: Duodenal mucosa shows preserved villous architecture and normal cellularity of the lamina propria. Brunner glands are identified. No gastric metaplasia is seen. No dysplasia or malignancy is identified. There are no viral inclusions. No Giardia, other parasites or other pathogenic organisms are seen. No Helicobacter pylori organisms are identified.

[Mereloo]

<WALL OF TEXT>

 

Ugh, sorry, the test results came out as a wall of text. I'll have to try to either edit it (if this system allows it) or post again with better formatting later. Sorry, I copied it.