Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Test Result Interpretation Help Please!

mom23bbg

Recommended Posts

mom23bbg Newbie
mom23bbg
Posted

Hi,

I am new here. My 5 yr old son was negative for all celiac disease bloodwork in 2010 and July 2012. He used to have mild GI symptoms that improved drastically after determining he is lactose intolerant, but he still had some ongoing, occassional issues until I realized that he also has an issue with fructose. I'm happy to report that since I started limiting his fructose intake in August, all of his symptoms have completely resolved and he is doing well, gaining weight, and growing :) I should mention that he was borderline anemic in July (10.8hgb) that has gone up to 12.2 with a low dose iron supplement. Likewise, since I started limiting his fructose, his appetite has increased tenfold (he never was hungry before!) and he is the happiest I've ever seen him. All of this has really made me believe in the fructose malabsorption diagnosis.

We have seen 2 GIs (NJ/NYC) and both were not concerned with celiac disease any longer; they felt we had ruled that out. Both agreed that if I saw complete resolution of symptoms with the new low fructose diet, that is it. However, my pediatrician decided to throw a wrench in the works and said, "Why don't we do the DNA testing for celiac disease? It will show us for certain that he doesn't have the gene and you can forget about it." Well, now I get these results. And of course, the pediatrican doesn't know how to interpret them other than to read the paper to me and tell me that not everyone with the gene will get celiac disease. I'd also like to know what these results may mean for my other 2 children (healthy).

Please help! I'm waiting to hear from the specialist.

Thank you so much in advance.

Lab Corp results:

Celiac HLA-DQ Result

DQ Alpha 1 01, 03

DQ Beta 1 03:02, 05

Interpretation:

These genes are permissive for celiac disease. The absence of HLA celiac permissive genes would make the presence of celiac disease unlikely. However, these genes can also be present in the normal population.

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


Takala Enthusiast
Takala
Posted

I'm not the gene person, I'm just bumping this up and hoping someone else more literate sees it. But, I think that means he's got the DQ2 gene, just like 30% (roughly) of the population. However, having the gene does not mean one automatically goes on to become celiac, it just means that the person is capable of it. Most celiacs have DQ2, but, obviously, not all DQ2's have celiac, or we'd see nearly a third of the population having a "gluten" problem with their digestive enzymes not being able to handle wheat family proteins. Also, one does not HAVE to have the DQ2 genes for celiac, there are the DQ8 genes, and there are a few rare people with more unusual types (DQ1 and they are celiac) or which seems to predispose them for what can only be called gluten intolerance (shorthand for "had bad symptoms, flunked the tests, responded to diet anyway.)

So don't panic, but be aware of the symptoms for celiac and gluten intolerance, and be vigilant.

Open Original Shared Link

mom23bbg Newbie
mom23bbg
Posted
  • Author

Thank you so much for responding, Takala. This is all very confusing and I'm so eager for answers. From what I've read today, I thought that having the combination of A1*03 with B1*0302 gives him DQ8.

I am reading his results as:

A1*03

A1*01

B1*0302

B1*0305.

I don't know at all if this is correct, but I am trying. If I look at it this way, that one gene combo I mentioned above =DQ8. I don't know what to make of the other 2 (A1*01 and B1*0305).

I didn't see anything for DQ2, but again, I am new to this. I'm not sure what to look for! I do know that DQ2 and DQ8 are both higher risk genes for Celiac.

Thanks again-

mom23bbg Newbie
mom23bbg
Posted
  • Author

Ok, so the GI nurse just called me and told me that he has DQ2 and DQ8. I don't know how she got DQ2 (can someone please help explain it?)

She said that since all his current bloodwork is negative for Celiac, they will not do anything now and instead will re-test him every few years.

Any advice? Help? Please!

Archived

This topic is now archived and is closed to further replies.

Go to topic listing
  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      131,899
    • Most Online (within 30 mins)
      7,748
    dcarter1682
    Newest Member
    dcarter1682
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.4k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • trents
      New (possible) celiac diagnosis

      By trents · Posted

      Welcome to the forum, @Judy M! Yes, he definitely needs to continue eating gluten until the day of the endoscopy. Not sure why the GI doc advised otherwise but it was a bum steer.  Celiac disease has a genetic component but also an "epigenetic" component. Let me explain. There are two main genes that have been identified as providing the "potential" to develop "active" celiac disease. We know them as HLA-DQ 2.5 (aka, HLA-DQ 2) and HLA-DQ8. Without one or both of these genes it is highly unlikely that a person will develop celiac disease at some point in their life. About 40% of the general population carry one or both of these two genes but only about 1% of the population develops active celiac disease. Thus, possessing the genetic potential for celiac disease is far less than deterministic. Most who have the potential never develop the disease. In order for the potential to develop celiac disease to turn into active celiac disease, some triggering stress event or events must "turn on" the latent genes. This triggering stress event can be a viral infection, some other medical event, or even prolonged psychological/emotional trauma. This part of the equation is difficult to quantify but this is the epigenetic dimension of the disease. Epigenetics has to do with the influence that environmental factors and things not coded into the DNA itself have to do in "turning on" susceptible genes. And this is why celiac disease can develop at any stage of life. Celiac disease is an autoimmune condition (not a food allergy) that causes inflammation in the lining of the small bowel. The ingestion of gluten causes the body to attack the cells of this lining which, over time, damages and destroys them, impairing the body's ability to absorb nutrients since this is the part of the intestinal track responsible for nutrient absorption and also causing numerous other food sensitivities such as dairy/lactose intolerance. There is another gluten-related disorder known as NCGS (Non Celiac Gluten Sensitivity or just, "gluten sensitivity") that is not autoimmune in nature and which does not damage the small bowel lining. However, NCGS shares many of the same symptoms with celiac disease such as gas, bloating, and diarrhea. It is also much more common than celiac disease. There is no test for NCGS so, because they share common symptoms, celiac disease must first be ruled out through formal testing for celiac disease. This is where your husband is right now. It should also be said that some experts believe NCGS can transition into celiac disease. I hope this helps.
    • Judy M
      New (possible) celiac diagnosis

      By Judy M · Posted

      My husband has had lactose intolerance for his entire life (he's 68 yo).  So, he's used to gastro issues. But for the past year he's been experiencing bouts of diarrhea that last for hours.  He finally went to his gastroenterologist ... several blood tests ruled out other maladies, but his celiac results are suspect.  He is scheduled for an endoscopy and colonoscopy in 2 weeks.  He was told to eat "gluten free" until the tests!!!  I, and he know nothing about this "diet" much less how to navigate his in daily life!! The more I read, the more my head is spinning.  So I guess I have 2 questions.  First, I read on this website that prior to testing, eat gluten so as not to compromise the testing!  Is that true? His primary care doctor told him to eat gluten free prior to testing!  I'm so confused.  Second, I read that celiac disease is genetic or caused by other ways such as surgery.  No family history but Gall bladder removal 7 years ago, maybe?  But how in God's name does something like this crop up and now is so awful he can't go a day without worrying.  He still works in Manhattan and considers himself lucky if he gets there without incident!  Advice from those who know would be appreciated!!!!!!!!!!!!
    • Scott Adams
      Patiently Waiting to See Results

      By Scott Adams · Posted

      You've done an excellent job of meticulously tracking the rash's unpredictable behavior, from its symmetrical spread and stubborn scabbing to the potential triggers you've identified, like the asthma medication and dietary changes. It's particularly telling that the rash seems to flare with wheat consumption, even though your initial blood test was negative—as you've noted, being off wheat before a test can sometimes lead to a false negative, and your description of the other symptoms—joint pain, brain fog, stomach issues—is very compelling. The symmetry of the rash is a crucial detail that often points toward an internal cause, such as an autoimmune response or a systemic reaction, rather than just an external irritant like a plant or mites. I hope your doctor tomorrow takes the time to listen carefully to all of this evidence you've gathered and works with you to find some real answers and effective relief. Don't be discouraged if the rash fluctuates; your detailed history is the most valuable tool you have for getting an accurate diagnosis.
    • Scott Adams
      Gluten free beer ?

      By Scott Adams · Posted

      In this case the beer is excellent, but for those who are super sensitive it is likely better to go the full gluten-free beer route. Lakefront Brewery (another sponsor!) has good gluten-free beer made without any gluten ingredients.
    • trents
      Patiently Waiting to See Results

      By trents · Posted

      Welcome to the forum, @catsrlife! Celiac disease can be diagnosed without committing to a full-blown "gluten challenge" if you get a skin biopsy done during an active outbreak of dermatitis herpetiformis, assuming that is what is causing the rash. There is no other known cause for dermatitis herpetiformis so it is definitive for celiac disease. You would need to find a dermatologist who is familiar with doing the biopsy correctly, however. The samples need to be taken next to the pustules, not on them . . . a mistake many dermatologists make when biopsying for dermatitis herpetiformis. 
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.