How Can I Have 5 Diagnosed Celiac Relatives, But Not Be Either Dq2 Or Dq8?

[UKGail]

Hi there. I went gluten fee back in September at the suggestion of a rheumatologist who was inclined to think I didn't have a connective tissue disease as thought by my GP(suggested polymyalgia rheumatica), and who I convinced that if it wasn't that, then it was a gluten issue, despite negative antibody tests. Well, the gluten free diet fixed the symptoms which had been acute for up to a year (high ESR, highish TSH, lack of periods, photosensitive hives, itchy skin and spotty scalp, burning facial rash, mystery swellings, painful varicose veins, abdominal pain, joint and muscle pain, loose floating yellow stools or D, frequent migraines with nausea or vomiting, frozen shoulder, numb arms and tingly hands, acute fatigue, ovarian cysts, chronic sinus pain and nasal drip), many of which had been rumbling in the background for over 25 years (migraines, abdominal pain, loose stools, fatigue, ovarian cysts), so we agreed that I would go and see a gastro for follow up.

Well, anyway, not being keen to be asked to do a gluten challenge, and still suffering from significant fatigue, I waited until I had been gluten free for about 6 months. It took that long for me to pluck up the energy and the courage to make the appointment. I went to see a highly respected celiac gastro who did some more blood tests, an endoscopy and colonoscopy. I managed a gluten challenge for 2 weeks. The first week wasn't too bad, just abdominal pain and grumbly gut and stools, but the second week was nasty - increasing joint aches and pains, headaches and bad fatigue. At the end of the second week I was felled by a bad migraine with awful stomach pain, nausea and D. When this happens to me I can't eat anything at all. Had to do the colonoscopy prep on the second day of this, with the procedures the day after.

The procedures themselves were fine, and I was very happy to eat some safe food again afterwards, starting slowly of course as my stomach had been upset. What I think is interesting is the results. Please bear in mind that gluten intolerance is rife in my Mother's family. We have 5 biopsy-diagnosed celiacs (aunts and cousins), then me and another cousin under investigation, my mother and children and some others are untested, but definitely gluten and lactose sensitive at the very least. A few others have their heads in the sand on the issue. There is not one single member of the family going across 5 generations who is free from suspicious symptoms.

Results were that I have zero antibodies to any of the tests (it was a full panel), except a tiny, tiny level of anti-tTG. I did have high IgM antibodies prior to going gluten free, which were anti-cardiolipin antibodies. Nothing to do with celiac, but they did go away once I went gluten free. I also had completely healthy villi. A bit of inflammation, that's all.

At this point you think, ok I am NCGI. That's fine. At least I know for sure there are no other gastro nasties and that any lingering pain can be dealt with by experimenting with my diet. Maybe the gluten challenge was a bit short, but as I couldn't have managed a longer challenge, that is not worth grumbling about. So I ask about the genetic test. Because of the strong family history, I assumed it would almost certainly be DQ2 or DQ8. But, no! Neither of those groups. We also have many allergies in the family, and I have a allergy to an antibiotic, so I enquire about allergy testing. Answer, yes we ran IgE tests to the common food antigens, and all were negative.

So, still NCGI, but ever so slightly gobsmacked that I could be negative on every single medical marker to gluten or wheat issues, and yet still have signficant symptoms which are alleviated by a gluten fee diet.

I would like everyone who is struggling with a diagnosis to be aware that it is possible for gluten to make you sick even if you are not celiac, nor in the genetic group which indicates a potential disposition to gluten intolerance.

And beware of gastro-enterologists who tell you that if your blood tests are negative, and even if your bloods and your endoscopy are negative, that you should carry on eating gluten because you are not celiac. This happened to me 3 years ago, and it cost me a great deal of worsening health and worry until I figured it all out with the help of this site, and the confidence given my knowledge of my family history. Second time round, having sought out a celiac-specialist, the Doctor has been much more supportive with a reasonably conclusive non-celiac result, and is nevertheless supportive of me continuing on a gluten free diet.

For those of you who have more scientific knowledge than I do, can anyone answer 2 questions (the doctor couldn't):

1) If I am not DQ2 or DQ8, does this mean that my maternal aunts or cousins would not be too? Or could that marker have been "lost" by the slightly removed family link?

2) I had been fasting (forced) for over 48 hours when the blood was drawn for the IgE allergy tests. Would this render the results invalid, or do IgE antibodies linger in the blood for longer than that?

Many thanks for reading this post, and apologies if it was too long. I hope it contributes at least a little to our informal understanding of this strange condition.

[mommida]

We had issues with the genetic testing. My daughter tested positive for DQ2 and DQ8. I tested negative for any of the known Celiac genes. Hmmm. Asked Prometheus labs how this could be possible. Well their answer... You could have the unknown Celiac genes ~ or the at least 2% that the test is going to miss, Genes mutate,and at least a 30% error rate for any test because of human error.

Well the company will not rerun the test even if my biological daughter (spittin image of me) doesn't genetically show to be my daughter.

Genetic testing is not 98% accurate as they say.

[ravenwoodglass]

Since you had been gluten free for six months before the tests and only did a two week challenge I am not at all surprised you were negative. By that point you would need a much longer challenge unfortunately.

There are more celiac associated genes than just the two you were tested for. I don't have them either but am firmly diagnosed. It would be interesting to have your diagnosed relatives gene tested. I am will to wager that at least some of them don't have either of those 2 genes as well.

Hopefully you will soon be feeling better

[Cara in Boston]

After 6 months gluten free, a two week challenge is not long enough. Even when symptoms return quickly, it can be much longer for it to show up in the blood or do any visible damage. You would need to do a challenge for at least 3 months, more like 6 months for even a chance at an accurate test.

My son's doctor (Specialist at the Celiac Clinic at Children's Hospital Boston) no longer even does the genetic test because it really doesn't tell you anything. People with the "common genes" don't get it. People with none of the known genes DO get it. There are exceptions on both sides.

With your family history and your positive reaction to the diet, it is pretty clear you have celiac.

Cara

[UKGail]

Hi Mommida, Ravenwoodglass and Cara.

Thank you for your supportive replies.

Unfortunately because I live in the UK none of the others in my family have been gene tested (I am lucky enough to have access to private medicine, which is the only reason I was able to get it done). I think that in theory GPs can order the gene test, but in practice they don't because they are expensive and budgets are tight and, as you say, it is only an indicator of a possible diagnosis. Also some were diagnosed too long ago. I too would love to know what they all are. My daughters too.

Hopefully one day medical research will find some decent ways to pick up all levels of gluten sensitivity/celiac before people suffer many years of ill health and either get diagnosed or figure it out for themselves.

Our family is now dealing with another bad case. My cousin, whose mother and brother are both confirmed celiacs, has ignored mild/moderate indications of trouble with gluten for many years. Things have recently escalated sharply and he is suffering badly from cluster migraines and is also now severely hypothyroid. He also has psoriasis. He has no celiac antibodies. Thanks to the strong family history, he has pushed for an endoscopy appointment, but the appointment is very slow in coming through, which is not helpful as he is currently too unwell to work. Even if the endoscopy is eventually negative, I think he is going to trial the gluten free diet afterwards to see if it helps. It seems a strange thing to say, but we are all hoping that he gets a positive diagnosis. I think you all know what I mean!

Gail