Prometheus lab celiagene results
 

My daughter just got her results back and she has the dq2 gene. The pediatric GI said that you need both genes to be diagnosed celiac. I keep reading conflicting information about the genes. Because she has one of the genes, does this make her more susceptible to celiac? Or do you need both genes to be considered at risk.

There's only one gene that seems to be proof against gluten sensitivity, according to Dr. Fine. That is if you have double DQ4.

Even if you have one copy of a gene it can become active. Your pediatrician needs to go back to school. :\

dq4??
 

My daughter was tested for dq2 and dq8. What is dq4?

I'm just saying, that any gene except DQ4 is one that is associated with either celiac or gluten sensitivity, according to Dr. Fine.

But in a nutshell, if you've got 2 genes you're more likely to develop celiac, but having one gene doesn't exclude you from it.
http://www.enterolab.com/Lecture/Lecturenew/frame.htm

This paper is good too: http://www.enterolab.com/StaticPages/EarlyDiagnosis.htm

Here's from his slides from his lecture:

Research Supporting Non-Celiac Gluten Sensitive Genes
•DQ1,3 found more commonly in MC and RA
–DQ3 subtypes are: DQ7, DQ8, DQ9 •DQ1 found more commonly in gluten ataxia
•DQ9 binds and reacts to gluten in vitro
•Only DQ4 seems not to increase risk of GS –Rare in U.S. - 13% heterozygous, 0.4% homo.

And here's from his FAQ:
I think he's saying there are other genes that they don't know what they are yet, that also have to be present to get full blown celiac. However, if you've got DQ2 or DQ8, you've probably got gluten sensitivity, even if it never progresses to the worst possible stage.

http://www.clanthompson.com/exp_doct..._category_id=4

This says 'either' mother or father. Not BOTH mother and father. I think your doctor is mistaken to say that two copies of a predisposing gene must be present to develop Celiac Disease. When the above reference says "HLA DQ2/8" it should read HLA DQ2 OR HLA DQ8, not DQ2 AND DQ8.

I have also heard having two predisposing genes may further increase your risk of developing the disease, but only one copy is needed. You certainly don't need both types of genes...as in both DQ2 AND DQ8.

30% of the general population carries one of these two predisposing genes. Only 1% of the general population go on to develop Celiac Disease (as defined by villous atrophy).

Many people who don't have Celiac Disease have symptoms related to gluten sensitivity . That is the part our doctors don't always tell us.

Has your child also had the antibody tests run? Do any other family members have Celiac Disease? Are there symptoms that look like gluten sensitivity/celiac disease?

Cara

P.S.
I always cringe a little bit when I hear some of the experts completely rule out Celiac Disease by the absence of DQ2 or DQ8. It is supposedly extremely rare (1% of the 1% who develop Celiac Disease), but I have crossed paths with two people who are antibody positive/ biopsy proven Celiacs with a genetic type of HLA DQ1. Unfortunately, you don't see much about that in print. I'd hate to be the individual with a missed diagnosis based soley on being the exception of statistics.

Here we go...this might help:
http://www.enabling.org/ia/celiac/cel-hla.html

Or it might not...lol...anytime I read the technical papers about genetics my brain just checks out.

If anyone knows of any more references in plain text, please post!

Symptoms
 

My daughter is 5 years old and when she was 2 she had 9 root canals. She was diagnosed with an extreme case of lichen sclerosis at the age of 4. They are unsure what causes LS or of the treatment, but some think it is linked with an autoimmune disorder. She weighs 33 pounds. She has not gained anything in the past year and a half but she grew taller, so her pediatrician finally got concerned. She is extremely constipated, she is currently taking laxatives from the GI doctor because they could feel the stools during her exam. My sister was gold standard diagnosed along with her daughter.

This is my personal point of view, but especially if there is celiac disease in the family... combined with symptoms that smack of gluten sensitivity... run the antibody blood tests (including antigliadin antibody IgA, IgG) if you haven't to see if anything shows grossly positive..but even if the tests are negative, give the diet a trial to see if any of her symptoms resolve and if she begins to grow more, etc.

There are just too many cases of people who test negative but improve on the diet...not to give it try.


Cara

edg
 

She did have the blood tests, and they were negative. Only 2 of the tests were ordered. I also read somewhere that they are usually negative in young children. She has an EDG scheduled for the 31st. The GI told me that you need both genes for celiac, so I did not want to go through with the edg unless it was necessary.

I always doubt myself when up against what a doctor tells you (yet, I'm not sure why because in my experience they've been wrong many times...still you like to think they should know), but I really don't think its true that you need TWO copies of the gene.

Two blood tests...sounds like they probably didn't include the antigliadin antibodies. Do you have copies of the lab? If not, request that much so you know exactly what they ran and exactly what the results were. They probably ran the anti-tTG and Total IgA. Some of the literature still recommends antigliadin antibodies for young children because the anti-tTG may not be positive; other literature says the anti-tTG is reliable in young children. Bottom line...none of the antibody tests are 100% accurate. Some studies show that as many as 20% of biopsy proven celiacs may be seronegative.

If you haven't yet, check out The Gluten File and read through the Diagnostic pages, including some of what is out there on antibody testing.

I understand your not wanting to put your daughter through an endoscopy unnecessarily. You would not be the first to skip a biopsy, and move directly to the diet. I did that with my young daughter (5 at the time), while we did the biopsy on my twelve year old because she wanted it. Just don't drop the ball altogether... and assume she can't have celiac disease because she only has one gene. That would not be a good reason to skip the biopsy, if you'd otherwise have it.

One way or another keep going down this path. You might want to request the antigliadin antibody tests assuming they were not run. That might give you a little more information before making the decision of whether to proceed to biopsy, or whether or not to move forward on the diet no matter what the biospy results might be. Some people just don't want to put there little ones through a biopsy, period. If you don't have those sort of reservations, then I'd say go through with the biopsy. She COULD show celiac disease despite negative blood tests.

She could also be negative for celiac disease, but still respond well to the diet. Happens all the time. You could skip the biopsy and let the diet speak to you. If she didn't improve, then you might still be faced with a biopsy in the future to look for other things. I talked this over with our pediatrician..my daughter had the weakest of the markers (positive antigliadin IgG). He actually supported my decision to try the diet. The GI would have preferred we did the biopsy, even though she thought celiac was a weak possibility.

Cara

Thanks
 

Thank you so much for all the info. I know that my daughter needs to get better and I need to find out what is wrong with her. I am going to go ahead with the biopsy and if that is negativev I will still put her on a GF diet while they test her for other things. Any other information or opinions are greatly appreciated.

I think that sounds like a fine plan...! I hope you find answers soon.

Cara

Nancy thank you for this great info.

I had not seen the DQ1 and gluten ataxia connection before and that's so interesting because DS has, of course, DQ1.

Thanks!

Rachel