Contradictory Testing for kid / DGP-IgG results

[Celiac's Wifey]

Hi Everyone,

I am looking for any relevant medical studies, and some general support, that may help me sort out contradictory test results and follow up for my daughter. 

First family history: My husband presented with pediatric DH and was confirmed through skin biopsy at age 11. His younger sister had GI issues forever, but no rashes. She was given the TTG blood test seven times over many years and it was always negative, with normal total IgA levels . She final convinced someone to do an endoscopy anyway, at age 35, and had full-blown biopsy confirmed celiac with severe intestinal damage and a concurrent diagnosis of hashimoto's thyroiditis. So she is in the tiny percentage where TTG test and IGA never worked. DH's father is also now diagnosed as a celiac - after developing psoriasis and diabetes, he finally took the standard blood test at a free celiac awareness event in his 60s (TTG positive-but late in life) and later endoscopic biopsy confirmed celiac disease. His brother and multiple first cousins on husbands side are also being diagnosed as celiac (biopsy) or have adopted a gluten-free diet without diagnosis because of symptoms. (In other words...the genetic link on that side seems to be...stronger? than reported risk rates). BTW, there are also autoimmune disorders on my side (my dad has churgg-strauss, both sisters hashimotos thyroiditis) though no diagnosed gluten issues.

So... my eldest daughter is seven. She had the TTG test at three (negative) and six (negative) ordered by her regular pediatrician at our request. She has ??symptoms??. It is HARD to tell with kids, and I am trying to check my own anxiety -  I don't want to overreact needlessly. However, I think it is fair to say she exhibits: heightened irritability, sensory issues, strange recurring rashes on legs, face, and buttocks with no identified contact allergens, (husband says they didn't look like his DH, so ?), inconsistent (but frequent) reports of stomach pain, and inconsistent toileting issues.

After a spike in these symptoms, to alleviate worry, we went to a GI celiac specialist for testing at a very well respected celiac center. The Doc recommended TTG, total IGA, DGP-IgG, and the genetic test. At age 7 she came back negative for TTG, normal for total IgA levels, and a strong positive on DGP-IgG. The range for her test - 20-30 considered a weak positive, over 30 a positive. Her results were over 100. He said based on this 'remarkable' serology result and the family history, she should have an endoscopy (multiple biopsies). However, he also told us her genetic results were negative, and her genes were incompatible with celiac disease. He followed up by saying that because her tests were contradictory we should do the endoscopy. We never saw the full genetic test results, and I need to figure out how to request them, but I assumed this meant she was negative for HLA DQ2 and DQ8 (I don't know this for sure.) Her endoscopy results were completely clean. No evidence of any damage. He calls them 'grossly unremarkable' in his lab report. He then told us that celiac disease was definitely excluded. I tried to ask about whether or not we should follow up on the high DGP-IgG result (I am concerned about other immune system implications) and he said no, and added that is could have been a false positive or it could be meaningless. IMHO, he was disappointingly snippy about it. (This totally surprised me, because we were at a celiac disease research center, and it annoyed me a bit, because in a phone conversation two weeks early he used that same test result as a strong reason for doing  an endoscopy on a seven year old??) He also told me, "you can put her of a gluten-free diet if you want, but I don't recommend it." So...I would like to celebrate because she is NOT a CELIAC (yay?) but from what I understand (and if you know more please correct me !) - if she had that serology, negative biopsies, and no genetic testing they wold have considered her a 'potential celiac' and urged a gluten free diet.

So.....she continues to have symptoms (inconsistent pain, rashes, toilet, sensory) that I think are not normal for a kid her age. (Example: urgent and unforeseen need to use toilet / evidence left in her underpants by the time she get there).

My questions to the community:

*How concerned should I be with that DGP-IgG result? Should I dismiss it as this expert suggested, given the family history? (Would you retest? Follow up with an immunologist? an allergist? Can people point me to med literature that clearly speaks to the accuracy and specificity of this test? I am confused by what I've read.) 

*Does anyone know of any medical lit that addresses why a kid might have an elevated DGP-IgG level if it isn't celiac disease? (I saw one study that seemed to suggest that in infants this might self resolve, but the same study pointed out that half the infants with elevated DGP-IgG and no measurable TTG results did have biopsy confirmed celiacs....)

*Does anyone know of any studies that tracked DGP-IgG levels in DH patients vs other celiacs?

*Does anyone know of other specific links between elevated DGP-IgG and other autoimmune disorders? 

*Are there other genetic markers I should check for, (including for DH instead of celiac),  I should look for on her genetic report if I do manage to get a copy of it? (BTW, do you think it is worth it to try to have my husband genetically tested??? No one in his immediate family has done it because they were all diagnosed other ways.)

*Are you a person that had biopsy confirmed DH and a negative genetic test? Or endoscopy confirmed celiac with a negative genetic test? (If so please please tell me you exist!)

And last but not least, there are two younger sisters at elevated risk because of family history.  What tests would you request for them? (I kinda want to chuck the genetic test through a window but I am trying to keep my faith in science and medicine and not be that mom-on-the-internet!)

Finally -- I know I can just put her on a gluten-free diet. We are familiar with it and she already eats lots of gluten-free foods because of her dads diagnosis. However, we aren't a gluten-free household (yet) though I suspect we may be moving in that direction. The thing is, I do believe there are good lifetime reasons to have a clear diagnosis if possible. 

I appreciate any insights and relevant (especially reliable and evidence-based!) feedback or links. Thank you for reading such a long post!

 

 

[Jmg]

Hello and welcome

Not a doctor so please take the following as such, just my opinion:

2 hours ago, Celiac's Wifey said:

*How concerned should I be with that DGP-IgG result? Should I dismiss it as this expert suggested, given the family history? (Would you retest? Follow up with an immunologist? an allergist? Can people point me to med literature that clearly speaks to the accuracy and specificity of this test? I am confused by what I've read.) 

Your daughter could have had a false positive, although they're very rare: http://www.cureceliacdisease.org/faq/in-blood-tests-are-false-positives-less-common-than-false-negatives/  I believe the DGP-IgG is considered very accurate: https://www.ncbi.nlm.nih.gov/pubmed/20042872 

Quote

 IgG DGP-AGA showed a very high specificity for celiac disease (98.9%), not only superior to IgA DGP-AGA (79.8%), but also to IgA tTGA (96.6%) and very close to IgA EmA (100%).

I'm sure recently I've seen someone here mention that the genetic test, whilst useful, is not in itself 100% ie there are people without the genes who do have celiac, but I don't know the figures.   

2 hours ago, Celiac's Wifey said:

Finally -- I know I can just put her on a gluten-free diet. We are familiar with it and she already eats lots of gluten-free foods because of her dads diagnosis. However, we aren't a gluten-free household (yet) though I suspect we may be moving in that direction. The thing is, I do believe there are good lifetime reasons to have a clear diagnosis if possible. 

I think you've done everything right and that you're right to still be concerned given her very high reading. This is a notoriously difficult condition to diagnose and many members here have had negative diagnoses prior to their positive one. Endoscopies can miss damage (it may be useful if you know how many biopsies were taken), some don't test positive on particular blood tests etc. Then celiac can develop at different ages, sometimes after a stressful incident etc.  

Given you've been seeing a Celiac specialist already the only 2 options I could see would be asking for a second opinion or for a referral to a dermatologist to investigate the rash. She could be diagnosed via biopsy if its Dermatitis Herpetiformis.  I think another Gastro would be reluctant to put her through and endoscopy again so soon. 

Alternatively, go gluten free, keep a food and symptom diary and see what effect that has on her symptoms. If they resolve then she's either celiac or NCGI and either way she needs to be gluten free. Sure a diagnosis would be better, but the main thing is getting her well. This is what I would do but I fully understand and respect your inclination to seek further evidence before taking such a step.

Best of luck!

 

 

 

 

 

[Gemini]

 I am becoming so tired of reading about people's experiences with snippy, know -it-all, so called professionals who discount a very high test result as "meaning nothing".  There are no false positives with a test result of over 100, period.  The extremely rare "false positive" usually applies to those with a reading of one or two points over normal range.  What disturbs me so much is that this doctor failed to do a full Celiac panel on a 7 year old with a strong family history of Celiac!  You know why it is so hard for people to be properly diagnosed?  The medical profession are not doing their job and then get snippy when you question them with legitimate questions! 

You have 2 choices here.......either find another doctor who will do the full panel, with EMA included, or pay for the testing yourself.  That's what I had to do because otherwise, I would have died before they figured it out.  There are places where you can order testing on-line and they give you a draw site to go to. I hope the member who knows of the site will chime in.  Or, you can put her on a gluten-free diet to see what results you will have. You do not want to blow this off if she does have Celiac because waiting for it to worsen so they can find the damage is never optimal.  That could invite other AI issues to bloom before she ever gets diagnosed.  Take it from someone who has 4 AI diseases in total because of the ignorance of the medical profession.  JMG gave excellent advice, as usual!

I have a double DQ-2 gene, which means it is on both sides of  my family.  Let me tell you, there are many who have it in my large family but only one has been diagnosed in the 12 years since I was diagnosed and went gluten-free.  They all have in your face symptoms but the docs said no Celiac.  (incomplete testing)  They now suffer from severe symptoms and health problems but still have their heads up their butt about it.  Sad.

Good luck and good for you for questioning all this!

[tessa25]

20 minutes ago, Gemini said:

You have 2 choices here.......either find another doctor who will do the full panel, with EMA included, or pay for the testing yourself.  That's what I had to do because otherwise, I would have died before they figured it out.  There are places where you can order testing on-line and they give you a draw site to go to. I hope the member who knows of the site will chime in. 

The full celiac panel includes:

TTG IGA
TTG IGG
DGP IGA
DGP IGG
EMA
IGA

You can either have a gastroenterologist order the full celiac panel or you can order your own test at a site like walkinlab.com. At walkinlab.com it's called the celiac comprehensive antibody test and costs $298.00 (not covered by insurance). The blood draw is done at your nearest Labcorp. You get your results in less than a week at walkinlab.com . I am not sure if you are allowed to order blood tests for children. You would have to ask at the website.

[ravenwoodglass]

I am an oddball genetically. DQ9, two copies one from each parent. Has your husband had his genes tested? I would wonder if he might have a rarer gene. Not all doctors are up to date with genetic research as far as celiac goes. There are more than just those 2 genes but those two genes are by far the most common.

Did the doctor take any biopsies? He should have taken at least 6 from different areas. I hope he didn't just go in take a look and say oh she's fine.

You could ask for a second opinion and at her age I would request one. Get all copies of blood work and endo results. If you are in the USA you have a legal right to them.

I think celiac is much more common than most folks and doctors think at this stage.  Everyone in my family tested positive. I had one child that was diagnosed by blood and biopsy but then had the diagnosis recinded when gene testing was done. That was what prompted me to test my genes.

As another poster mentioned test results that high are not a false positive. Keep her on gluten until all testing is done but IMHO after that is done she should go gluten free strictly.

[tessa25]

45 minutes ago, ravenwoodglass said:

I think celiac is much more common than most folks and doctors think at this stage.  Everyone in my family tested positive. I had one child that was diagnosed by blood and biopsy but then had the diagnosis recinded when gene testing was done. That was what prompted me to test my genes.

 

Are you saying you had a child with positive bloodwork and positive biopsy, but didn't have celiac? What did they have? I'm confused.

[ravenwoodglass]

47 minutes ago, tessa25 said:

Are you saying you had a child with positive bloodwork and positive biopsy, but didn't have celiac? What did they have? I'm confused.

They had celiac both blood and biopsy confirmed and did well with the diet. Then in young adulthood after years gluten free gene testing was done. She was then told that without the genes the previous diagnosis was wrong.  It wasn't.

[tessa25]

5 minutes ago, ravenwoodglass said:

They had celiac both blood and biopsy confirmed and did well with the diet. Then in young adulthood after years gluten free gene testing was done. She was then told that without the genes the previous diagnosis was wrong.  It wasn't.

Ahhh, that makes sense. I never did understand the purpose gene testing for celiac.

[ravenwoodglass]

2 minutes ago, tessa25 said:

Ahhh, that makes sense. I never did understand the purpose gene testing for celiac.

I feel it could be helpful but only if they test everyone diagnosed with celiac and DH but not using it as part of a diagnosis to the extent that it negates other positive testing.

[RMJ]

I would try to get genetic testing for your husband.  If his genetics say he shouldn't have it, you'd know that your family can have celiac without the usual genes.

[Celiac's Wifey]

Hi Again,

I want to thank everyone who replied to my long post and questions. I can't tell you how much it means to me to feel supported as we try to sort out what to do next. You guys were also amazingly fast. If more people out there see the post and have further ideas for any of my 8,000 questions please continue to reply if you can.

Feeling reenergized (and heard) because of you guys, so drafted and sent the request for the full genetic test results and a list of follow up questions that we felt were not addressed by the doctor last spring. (She did have multiple biopsies and they were clear. We actually feel pretty confident these were done right. On the other hand, she's still pretty young, if an immune response is in early stages, or if the immune response is targeting something other than her upper gut maybe there isn't damage there to find (yet?).  She also has somewhat limited exposure to gluten as a byproduct of sharing meals with her dad -- who obviously is gluten free.)

Incidentally, she was complaining of being super itchy tonight, and sure enough when we looked she had big red rash patches on backside. Raised red papules. Husband said this time they do kinda remind him of his DH.... Considering if we should try to find a DH specialist to look at her rashes -- but they have been tricky. We have no idea when they will come up nor how long they will last. Would like to have the full labs and genetic reports in hand before we see another doctor.... It cost me so many spoons to be 'dismissed' for trying to ask follow up questions on the day of her endoscopy (which was already kinda rough!). 

So thank you and thank you again to everyone who replied with information, encouragement, and generally confirming that exceptions exist. It really does mean so much to me.

 

 

[Jewels50]

On 8/2/2017 at 9:16 AM, Celiac's Wifey said:

Are you a person that had biopsy confirmed DH and a negative genetic test? Or endoscopy confirmed celiac with a negative genetic test? (If so please please tell me you exist!)

I exist!  I have confirmed Celiac with biopsy and positive blood work but my genetic testing says I do not have the DQ2 or DQ8 gene.  So when I read the so called experts state it is impossible to have Celiac without those two gene markers, I tune out.  I am not sure if I have the DQ9 gene or not.  Thank you Ravenwood for pointing that out.  I was born and raised on a large wheat and barley farm.  I worked shoveling wheat/barley (think wheat dust), pulling rye from wheat and barley fields, and eating home ground/made wheat bread.  As a child, I was sick A LOT with throwing up, diarrhea, horrible rashes, mouth ulcers, pale, thin, extremely tired, etc.  But back then (in the early 60's), no one suspected Celiac disease.  Later, I had extreme infertility issues including a stillborn son and many miscarriages. (Much, much heartache!)   It wasn't until I was 50 at a routine colonoscopy that my GI asked if I thought I might have Celiac because I was so thin.  I told him that yes, I thought I did.

The blood work (after two weeks of glutening up) came back positive for DGP, TTG and EMA antibodies.  The biopsy showed that my small intestine was damaged with no villi present.  My genetic testing (done by a different company at my own expense) came back negative for DQ2 and DQ8, but that company remarked that all the genetics for Celiac disease have not been discovered as of yet and other genetic markers may have a hand in it.

As so many others on here, I have been dismissed, patronized, lectured, shut down when I ask questions and want to see my own reports.  For decades I was misdiagnosed, told it was all in my head, told to de-stress my life, Yada yada, blah blah.  I do a happy dance when I see so many others on here get proactive and support others to do the same.  

I am glad to see you doing the same with your daughter!  

 

[ravenwoodglass]

12 hours ago, Celiac's Wifey said:

Incidentally, she was complaining of being super itchy tonight, and sure enough when we looked she had big red rash patches on backside. Raised red papules. Husband said this time they do kinda remind him of his DH.... Considering if we should try to find a DH specialist to look at her rashes -- but they have been tricky. We have no idea when they will come up nor how long they will last. Would like to have the full labs and genetic reports in hand before we see another doctor.... It cost me so many spoons to be 'dismissed' for trying to ask follow up questions on the day of her endoscopy (which was already kinda rough!). 

 

 

 

Take photos of any rashes she gets before you see the derm. That way if there is a wait and the rash clears up you have the photos and copies of her other tests. The derm may be able to arrange it so she can get right in for a biopsy when a rash is active.   Perhaps keep a symptom log if you feel that also might help with any doctors. 

[Celiac's Wifey]

I photo'd her rash. They are the actually the best photos I've ever taken one of her rash outbreaks with my phone. I know that might sound goofy, but I've been trying to get a decent photo of these random rash outbreaks for over a year. They really don't photo well. (And they are not nearly as extensive as some of the rash outbreaks I saw of DH on this site!)  I am trying to be more methodical about everything, and actually track a symptom log (and on the way also trying I'm trying to check my own bias that it is celiac related (see family history above) so that if something else is wrong I don't miss it! - My family has weird autoimmune stuff too!)  They have mostly been smaller patches of little red bumps but this new one has three other types of bumps. I think they are 'vesicles' but I don't know for sure.

I also read this article from 2016: NASPGHAN Clinical Report on the Diagnosis and Treatment of Gluten Related Disorders. (http://www.naspghan.org/files/documents/pdfs/position-papers/NASPGHAN_Clinical_Report_on_the_Diagnosis_and.28.pdf) and found the attached chart in it, so if anyone else is looking for the sensitivity and specificity of the blood tests its here. (There is probably a better place to cross post this? If someone experience of these boards knows where or can do that let me know.)

 

Interestingly there was also a sentence in that article that said

Quote

"An isolated positive IgG-based test with negative IgA-based tests in an IgA-competent individual is unlikely to be because of celiac disease (3). In such patients, other causes for symptoms should be considered and clarification on whether the subject has been avoiding gluten is required before recommending additional testing for celiac disease."

Honestly this hit me for the dumbest reason. I have never intentionally restricted my daughter's gluten intake. But my husband is diagnosed. So everything I bake? You guessed it: gluten free. All our major meal compontents? Gluten free. For years I've only used gluten free noodles, gluten-free chicken strips, gluten-free mac&cheese, corn tortillas, potatoes, rice....and lots of whole foods that are natually gluten-free. Not on purpose for the girls, but because its nice if a family can all eat the same meal and I don't have to worry about cross-contaminating my husband. Birthday cakes. Frozen waffles. Even all the breakfast cereal. Chex and cheerios and panda puffs and leaping lemurs. So we are not a gluten-free house.... There are also some goldfish and ritz crackers and some thomas english muffins over there most days.....But more food in this house than not is gluten-free or mostly gluten-free. Even when we eat at grandma's house, same deal (remember how grandpa and auntie are also celiacs?) Now I am wondering she was unitentionally eating too little gluten to tip her other tests. I obviously have no idea if that is the case but now I have....(sigh)...another question. And I'm also wondering how that basic fact will affect the efficacy of future testing of the two little sisters. Ugh!

[ironictruth]

So,  I know of a couple of studies. They are in my brain Attic somewhere  but it needs some serious dusting so give me a while to find them.  they do support the strong possibility of false negatives.

 However, eons ago I worked in a medical records department. And I can't tell you how many times I went to file a positive result on a lab that had not been initialed by a doctor, which meant it had not been seen by the doctor.  someone at my doctor's office recently kept Saying that I had a positive IGG as well and I never did have a positive IGG. I only had a combined positive DGP and a couple of week positives on the IGA.  at the time they were insistent it was the IGG, but the records had been sent To them.  somehow someone got the incorrect record. Things do happen so I would request a copy of all testing including the genetic tests.

 then, as mentioned in a previous post there's always those really bizarre cases with less common genes.

 my brother and I are both, in essence, serology negative. Or at least TTG and ema negative. He had a lot of damage on his biopsy and I have marsh 2-3a. 

Finally,  the older generation AGA testing, is reportedly positive in about half of folks with non-celiac gluten sensitivity.  you are not required to be Gene positive to be ncgs. Both this and serology negative celiac disease articles can be found written by Umberto Volta.  I am unsure if similar results occur with the DGP test as it's only been used in the state's roughly about 10 years.  however, my guess would be yes. And the reason why is because obviously a number of children and adults are showing up to Celiac clinics and are being used in research who have positive DGP testing but no damage on the biopsy and some of them are Gene negative.  at the same time, they are showing up to these clinics for a reason, they are having symptoms.  to me, showing up to a Celiac disease Research Center with the symptoms and a positive DGP Is suggestive of the possibility that the DGP test can be positive in folks with non-celiac gluten sensitivity.

 I am very curious as to where it is that you're going? I'm guessing not Boston. NYC?

 

[Celiac's Wifey]

Hi Readers,

I see a couple people are following this thread, and maybe it will be useful to someone else in the future, so I thought I'd update.

I sent a follow up email to the center with my questions, a request for clarification of some things relating to DH,  and a request for the full genetic test, and they recommended I come in to see a different one of their doctors - also a Gastroenterologist. Hmmm. Husband& I deliberated, and decided to do it. Second expert opinion, but same place.

In the meantime with help from this board I found two other potential symptoms related to my daughters health that I believe are mediated by an immune response to gliadin (as measured by her strong positive DGP-IgG result): she has mild clubbing of her toenails. They are thickened and curve strongly over the tops of her toes if they grow (like an upside down spoon). It was actually a symptom I found accidentally - I was actually searching to see if her 'weird' toenails might be linked to some other autoimmune condition...and guess what? Celiac is a cause. https://medlineplus.gov/ency/article/003282.htm (it was also discussed by the dad of a pediatric diagnosed celiac in an old thread on these forums.)

I also noticed a patch of depigmentation on her torso. A bright white patch (it's small - about nickel sized, but definitely there.) The area hasn't been exposed to sun, and wasn't the site of a lesion. I suspect it is vitiligo - which is autoimmune, and has been linked in  several cases in the medical literature to concurrent celiac. 

We went to the half-hour follow up with a new doc. The GI seemed skeptical of me, but said that daughter's initial celiac blood tests should be rerun (TTG-IGA, DGP-IgG), (I guess if it pops positive again we can finally dismiss the 'false positive' idea - I will be curious if this doc will also tell me it is 'meaningless'). This doc also ordered protein allergy blood test, some test to rule out other bowel complication, and we are doing the EMA test too (I requested this be added.)

She told me my kid may be lactose intolerant and to trial 3 days lactose free and said the rashes sound like psoriasis. She looked at white patch and said my kid probably had a rash there and that's why she lost pigment. She looked at toenails (remember - she's a GI) and told me she thinks my kids toes just look like that. (BTW, cant tell if it is happening with fingernails - daughter is a serious nailbiter so they are down to the quick). She recommended we see a dermatologist too. Haven't followed up on that yet.

It was only a half hour follow up, so by the time we went through this stuff I didn't really get any explanation / answers of the genetic test. I asked for print outs of all her full labs including the genetic tests and was told the nurse would take care of it, as doc had other patients. Nurse came in - very nice - gave me computer screen shots with entered results - no actual labs, no info beyond 'negative' or 'positive' (not even reference ranges!) I politely explained that I needed the full labs.

I was told I needed to walk two blocks to a different building, find a specific difficult to access elevator, take it to a basement, and find the medical records office. (Incidentally, on my walk - with two of my daughters aged seven and five, I was sexually street harassed through a truck window / yelling, catcalling, and honking by some ass%$@#. This has never happened to me before when I was with my kids. WTF is wrong with people?? Can I blame gluten for this?? ; ) )

Anyway, I got the full records. (For which, again, I thank people on this board for reinforcing my own basic belief that answers are worth it!) .

Turns out she is a double DQ7.

I can find the DQ7 allele in the med literature linked to celiac all the way back to 1998 studies.

I also found specific studies that had biopsy-confirmed celiacs with the double DQ-7 haplotype.

And I also found this large study, out of University of Naples, published in 2015, http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138324 that says:

"We diagnosed celiac disease in 666/5,535 individuals, 4.2% of whom were DQ2/DQ8-negative. Interestingly, DQ7 was one of the most abundant haplotypes in all celiac disease patients and significantly more frequent in DQ2/DQ8-negative (38%) than in DQ2/DQ8-positive celiac disease patients (24%) (p<0.05)."

and also this:

"In conclusion, our results obtained in a large Italian cohort of children and adult celiac disease patients lend support to the concept that DQ7 represents an additive or independent celiac disease risk haplotype with respect to DQ2/DQ8 haplotypes. Moreover, our data questions the negative predictive value generally attributed to the absence of HLA-DQ2/DQ8 molecules in subjects at risk of celiac disease. In fact, based on our results a diagnosis of celiac disease should not be ruled out a priori in HLA-DQ2/DQ8-negative individuals carrying the HLA-DQ7 molecule, but this finding should be verified in other large celiac disease populations."

So telling people that it is only DQ2&8 is really bs, which I already knew from you guys. (Apparently - and I found this from an interview link in a different thread on this site) the enterolabs guys, who has a profit motive in getting these tests right, recently said that in his opinion the only excluded haplotype should be double dq4.)

When doc calls me next week to tell me new serology results, I may politely ask if the center is familiar with the myriad of peer-reviewed published medical studies that link DQ7 to celiac, and if so, why they told me (repeatedly) that my daughter is genetically incompatible and can't be at risk.

We took the other two daughters for the blood tests through their pediatrician (They don't seem symptomatic to us outside of irritability (!?) but it is recommended that their risk groups be screened every three years).

So...interestingly is daughter is double dq7 and it means I am dq7 too. I am going to pursue some blood testing too, to be cautious. I've never identified typical GI issues, but I have some other autoimmune-suspicious stuff happening, including peripheral neuropathy. Husband and I agree that if I wind up with positive tests it would be a really surprising outcome! But knowing what I know now, and with two sisters with hashimotos thyroiditis.....hmmmm.)

Husband and I are still debating full gene testing for him. We know he is Dq7 at least, and that he is a biopsy-confirmed celiac, so the only point in gene testing him would be to clarify what else he is in addition to DQ7, which wouldn't change what we are doing for him, and is a bit pricey to satisfy our curiousity.... We may still.

I'll updating again with how all three ds new tests turn out....

[Celiac's Wifey]

Updates

Daughter 1 repeat tests: super high DGP-IgG (again). Validating that the first time was definitely not a false positive. Her TTG-IgA still showed nothing, EMA IgA showed nothing. Rast allergy blood test (11 proteins, IgE) showed nothing. Thyrotropin test came back high - hypothyroidism. No measurable thyroid antibodies (yet? not yet hashimoto's ?) Results released electronically - no call from doc. As soon as we saw them husband and I decided she was going gluten free. 

Sent message on online system asking doc to call me to discuss positive test results. Nurse called two days later to say doctor is on vacation but told me that given test results we should put daughter on a gluten-free diet. Okay - did that - but now under 'official' medical advice.

Still waiting for call from doc. So this is 'response to diet' phase and I am still symptom logging - would love to say she is better but not yet. Two days after going gluten-free she developed new rash patches under the very back of her arms where they meet her back – behind her armpits. Husband was out of town. His mom happened to come over. I asked her if husband had that DH rash on his butt and under arms (these are supposedly not typical places). She confirmed he got the rash in both places. Grandma asked to see daughter's rash – confirmed that this new location was exactly where some of husband's most troublesome and itchy childhood DH would occur. I actually got chills watching her look at my daughter, and remember going through the diagnostic process with her son. Grandma also confirmed that husband's patches would sometimes come and go very quickly – often less than 24 hours in the beginning – which is partly why it took more than 2 and a half years (and four skin biopsies) to finally get a conclusive diagnosis for him (they had no suspicions of what it could be back then -this was almost 30 years ago and they'd never heard of DH or Celiacs before the diagnosis .). 

When husband got home I asked if he wanted to consider a dermatology follow up / and seek a definitive skin biopsy of the rash for daughter #1. He said definitely not. He saw a ton of dermatologists as a kid and got a ton of b.s. diagnoses (including “poison ivy” in the middle of winter in Minnesota - with eleven inches of snow on the ground!) before the conclusive biopsy. He added that the skin biopsies were extremely painful for him as a child and that he doesn’t see the point in subjecting daughter to more pain, scarring, and invasive testing when he now feels the logical thing to do is confirm celiac / dermatitis herpetiformis through a gluten free diet. His feeling is that if she is on a gluten free diet for several months and symptoms appear to be worse, then we might pursue dermatology for rashes as needed. He is confident this will not be neccessary.

Curious when I speak to doc what she will tell me. Pretty sure this center's line will still be that she is NOT A CELIAC. This despite clear symptoms, rash patches now following the exact same clinical appearance as her fathers biopsy-confirmed DH,  strong family history, family history that indicated that the IgA testing might not work, compatible genetics, two high positive results on a highly specific blood test for celiac disease, and the elimination of wheat allergy (RAST) and lactose intolerance (eliminated for three days on docs advice) as possibilities. This despite best current research indicating that intestinal biopsy should no longer be considered gold standard for pediatric diagnosis - that the failure rates for biopsy are likely over 4% (compared to serology false results on the highly specific test she did twice - 1-3% failure rate):

http://www.gastrojournal.org/article/S0016-5085(17)35532-4/pdf

I don't know for sure what this doc will say. But between the two docs at this 'celiac center' they have now willingly told us: functional stomach pain (even though she was waking up and going to sleep with pain), false positive blood test (nope - second one reconfirmed), genetic incompatibility with the disease (NOT TRUE!), vitiligo, possible psoriasis, lactose intolerance (nope), and subclinical hypothroidism to explain my daughter....... I find it kind of hilarious that a gastroenterologist is willing to freely speculate that my kid has multiple other related skin autoimmune disorders that somehow both cropped up in the last year but probably won't be able to  admit that the most likely explanation is one underlying cause of all these symptoms and it is....drumroll please....(  too many episodes of HOUSE? Occam's Razor!) all this stuff is my kid's non-classical early stage celiac disease.

Response to diet will absolutely confirm this for my family. 

She will then have met the four of five criteria for pediatric diagnosis, (symptoms, positive serology, genetic compatibility, response to diet) assuming it is updated to account for confirmed recent research findings to include HLA-DQ7 as risk / not just DQ2 and 8. 

The more I read over the last month the more I realize that the science just absolutely isn't where it needs to be for correct and early diagnosis of this disease. I think this is probably especially true if you have innate autoimmunity rather than the acquired autoimmune response.

Perhaps with people with the acquired autoimmune variant of celiac disease, there really is a triggering event, and maybe then the testing works well, but from what I am seeing with my daughter, the current cascades absolutely don't play nice with atypical cases, innate autoimmune problems with gliadin, and/or early stages of this disease. If she does have a positive response to the diet, and we sure as hell hope she will, I will feel very happy we caught it relatively early.

This does leave us in a bit of a bind with the other two daughters. They already had a 1-in-14 chance. Now with sis, 1 in 10. Knowing I have at least one bad gene and husband w 2.....They had their first serology screen - they are negative so far but both had total IgA levels at the very bottom of the very large ranges for their ages. I don't know if this is suspicious or not. Husband and I are discussing whether or not we should consider a gluten-free diet for them both as a preventative measure to forestall any other autoimmune /systemic damage for the next five critical development years of childhood, and see if the advances in testing/diagnostics can catch up in those years....

In the meantime, gluten is almost totally out of the house. We are waiting for our new toaster....

[Saoirse-]

Dear celiac's wifey

 

I think me and my baby girl have the double 7.5.

I had my blood tested ttga 0,3 dpg igg 18.

I am getting a biopsy in January and am concerned. I have a slow thyroid.i have ( i was worried) gone glutenfree for 2 months now, so st time of biopsy 2,5 months.

I am mainly concerned for my girl who also has 7.5. my boy doesn't. She is not growing well but is really happy and has no belly aches. 

What should i expect. I wish i do not have celiac and my girl. I have no dq2,2, no dq 2,5 no dq8.

 

So no in trans either right?

Can anyone help? What is the 7.5 story?

 

 

[cyclinglady]

2 hours ago, Saoirse- said:

Dear celiac's wifey

 

I think me and my baby girl have the double 7.5.

I had my blood tested ttga 0,3 dpg igg 18.

I am getting a biopsy in January and am concerned. I have a slow thyroid.i have ( i was worried) gone glutenfree for 2 months now, so st time of biopsy 2,5 months.

I am mainly concerned for my girl who also has 7.5. my boy doesn't. She is not growing well but is really happy and has no belly aches. 

What should i expect. I wish i do not have celiac and my girl. I have no dq2,2, no dq 2,5 no dq8.

 

So no in trans either right?

Can anyone help? What is the 7.5 story?

 

 

If you are getting a biopsy, you need to be on gluten daily for 2 to 4 weeks before the procedure.    All celiac testing (blood tests and biopsies) require a person to be on a full gluten diet.  

As far as genes are concerned,  some 35 % of the population has the genes that could develop into celiac disease.  That is a lot of people!   But....only a tiny few actually develop celiac disease.  Gene testing just helps rule out celiac disease and does not help to diagnosis except in rare cases (like you are so sick the doctor will skip the biopsies and diagnose based on genes, blood tests and response to the gluten free diet).