Celiac Disease in Children (Summary of January 2014 Review Article)

Drs. Guandalini and Assiri have written a summary of pediatric celiac disease that was published in the online edition of the journal JAMA Pediatrics last week. In this post I will share some of the highlights of their review article.

Although the overall prevalence of celiac disease is 1% in the pediatric population, only 10-15% of children with celiac disease have been diagnosed and treated.

The celiac genes (HLA-DQ2 and DQ8) contribute 40% of the risk of developing celiac. Environmental risk factors for celiac disease include infant feeding patterns, early infections, gut microbiota, and the amount and timing of initial gluten exposure.

The two major autoantibodies used in the diagnosis of celiac disease include the anti-TTG IgA and antiendomysial IgA. The antibody against deamidated gliadin peptides IgG (DGP IgG) is a 3rd antibody that has been identified. The DGP IgG may be the best one to use for diagnosing celiac disease in young children (under the age of 2) as it has the highest sensitivity in this age group.

During the past few decades there has been a shift from children presenting with celiac disease having typical symptoms (gastrointestinal) to having extraintestinal (atypical) symptoms.

“Typical” symptoms include abdominal pain (most common), diarrhea, chronic constipation, weight loss, vomiting, abdominal distension, and malnutrition.

“Atypical” (extraintestinal) symptoms in children include all of the following:

  • fatigue
  • iron deficiency anemia
  • dermatitis herpetiformis
  • dental enamel defects
  • aphthous ulcers (canker sores)
  • arthritis and arthralgias (joint pains)
  • low bone mineral density, fractures of bones
  • elevated liver enzymes
  • short stature
  • delayed puberty
  • cerebellar ataxia
  • recurring headaches
  • peripheral neuropathy
  • seizures
  • psychiatric disorders, including anxiety, panic attacks, depression

Celiac disease is associated with other pediatric conditions, including type 1 diabetes mellitus, selective IgA deficiency, Down syndrome, Turner syndrome, and Williams syndrome.

Patients with celiac disease are at an increased risk of all of the following (I was not aware of many of these associations until I read this article):

  • adrenal insufficiency
  • asthma
  • IgA nephropathy
  • lupus
  • pancreatitis
  • hyperparathyroidism
  • endometriosis
  • cataracts
  • ischemic heart disease
  • dilated cardiomyopathy

Dr. Guandalini recommends that celiac diagnosis in children involve celiac antibody testing, endoscopy with small bowel biopsy, and response to the gluten free diet. He does discuss that the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) has recently issued guidelines for diagnosis in which, in select cases, the small bowel biopsy can be omitted. Dr. Guandalini’s major concern is that if children undergoing evaluation do not have biopsies done, that other GI diagnoses that may need treatment, such as eosinophilic esophagitis, can be missed.

Celiac Disease resources that were discussed toward the end of the article include the Academy of Nutrition and Dietetics website,, and an e-book created by the University of Chicago Celiac Disease Center called “Jump Start Your Gluten-Free Diet.”

In summary, this is a nicely written paper that is a great summary for pediatricians and other practitioners who need to be on the look out for celiac disease in their pediatric patients. I also thought that some of you non-medical folks might be interested as well!

Reference: Guandalini S, Assiri A. Celiac Disease: A Review. JAMA Pediatr. 2014 Jan 6. doi: 10.1001/jamapediatrics.2013.3858.

Lastly, the super cute children in the photo are my baby brothers and nieces who are now in their late teens and twenties. Since none of them read my blog, as they seem to be in denial that they have a risk of celiac disease, I had no qualms about sharing their adorable photo. Also, I became an aunt for 19th time this past week! Welcome baby Gabriel Dominic and congratulations to my sister and her family on his birth.

Thank you for reading!


14 thoughts on “Celiac Disease in Children (Summary of January 2014 Review Article)

  1. Diana Thompson

    Thanks, It looks like a great thing to print off when I visit a new MD soon. My children have had some of these symptoms. They just keep saying that the symptoms can be caused by something else.

    1. Jess Post author

      Hi Diana,
      I am glad that you found this helpful. Like you, I feel like I have to stay diligent about looking for signs and symptoms in my kids too (although I have far fewer kids than you to look after!)

  2. Meghan

    I have a question that is actually for a friend. Her 23 month old son tested negative for CD in blood tests, DPG igG I believe, at around 16 months. He also tested negative for the DNA indicator. She opted out of the biopsy at the time because she wasn’t comfortable with him having it so young. He has an obvious visible reaction: lethargy, dark circles, misbehavior, and does not want to eat as well as bumps around his mouth and diaper area when exposed to gluten. Besides that his bowel movements become liquid and full of undigested foods. He is still breastfeeding and this is all he wants to do after gluten exposure. Once she realized all this and removed gluten from the home and he began gaining weight (he had been listed as failure to thrive), began having solid, digested bowel movements and his entire personality changed. He became a happy child full of energy. Should she go through with the biopsy, given she already recognizes that the issue is gluten? They have run other tests and have found no other definitive answers, We live in rural Alaska where the nearest Drs are 100 miles one-way and the nearest specialists are over 400 miles so this adds to the difficulty of regularly seeing specialists and drs.

  3. Meghan

    I should also note that they are a health-conscious family. They eat mainly organic and avoid hormone laden foods and GMOs.

    1. Jess Post author

      Hi Meghan,
      It’s good to hear from you and I hope you and your family are doing well up in Alaska!
      Almost all of the U.S. celiac experts are still recommending a biopsy in kids, and in Europe, in order to avoid a biopsy, a child must have symptoms of celiac, very elevated antibodies, and improvement when GF…it sounds like your friend’s baby has 2 of the 3. I have decided that for all of my kiddos that I will get biopsies if/when the time comes that they need evaluated because I think that it is important to have a clear-cut answer. That being said, considering the time/distance/logistics, I can totally see reasons why your friend may want to make her son GF without a diagnosis. Because even if he doesn’t have classic celiac disease, it sounds like he’s got a severe case of non celiac gluten sensitivity (with the treatment being the same, the GF diet for life). If they opt to make him GF now, they just have to be aware that there may/will come a time that he will need to undergo a gluten challenge and biopsy to get a firm diagnosis. Also, there are other digestive problems that sometimes go hand-in-hand with celiac disease in kids, such as eosinophilic esophagitis, and if he doesn’t have an endoscopy, these diagnoses may be missed.
      Interestingly enough, there is a blood screening test for celiac disease in the works that will require GF patients to only need to undergo a 3 day gluten challenge for diagnosis, but my understanding is that we are years and years away from this being on the market. It is being studied by the same company that is working on the Celiac vaccine, ImmusanT. A little unrelated, but another thing to keep in mind is that many of the celiac drugs that are currently being developed, such as NexVax2, are only going to be available to patients with biopsy-confirmed celiac disease.
      Lastly, I am assuming that your friend’s doctor has ruled out other causes of chronic diarrhea in a toddler (lactose or milk protein intolerance, frutctose malabsorption, Giardia, cystic fibrosis, etc.)
      P.S. Not sharing this to further complicate matters, but I am a DQ7 celiac. I did not find out that I did not have the main celiac genes until about 2 years after I was diagnosed!

  4. Harpreet

    Hey Jess,

    Awesome post. Thanks a lot for sharing and summarizing the article.
    I have a question, that’s been on my mind for a while now, with regards to pediatric celiac disease.
    We all know celiac disease is genetic but does it also exhibit hereditary pattern; as in, if a parent has celiac disease what are the chances of the child having celiac disease?


    1. Jess Post author

      Hi Harpreet!
      It’s good to hear from you!
      Genetics has always been one of my weaker areas, but as far as I know, celiac does not follow any sort of autosomal dominant or recessive pattern (i.e. if both parents carry one gene, we are unable to predict the % chance that a child will have the disease). If a child has one parent with CD, then a child has between a 5 and 10% chance of developing CD sometime during his/her lifetime. I have never seen any data as to if the risk is any higher if both parents have CD…it logically seems like it should be, but I am not sure if this is the case. Does this answer your question?

  5. Harpreet

    Hey Jess,
    Thanks a lot, yes it does answer my question but also raises a lot of questions. Perhaps for the online journal club, next month?
    I’m going to email the Celiac Disease centers in Chicago and Canada to find out more. Someone hopefully does have the statistical data to support/refute the case.

    Thank you.

  6. Tammy

    Hi! You mention above: Patients with celiac disease are at an increased risk of all of the following…. and you list Asthma. Would this apply to adults too? Over a year ago at the age of 46 I was going thru major health issues. They thought it was my heart (which was not the case) and also they started to treat me for Asthma. I was taking Advair twice a day and my Albuterol twice a day. Started to feel somewhat better but still had breathing issues and was wiped out all the time. No energy, no life! Once I went Gluten Free (suggested by a friend – not my doctor or specialists) I started to get my life back. And now I am down to just taking my Advair twice a day and the other only in rare situations. To be diagnosed with it at this age and to have never smoked, never been over weight, and I am a very exercise / health conscious person….. I just find it mind boggling and hard to accept. I have no clue where or why….. Even though I am now Gluten Free, I will be forever relying on Advair. Through further tests and evaluations, I have been diagnosed with Celiac disease. But I struggle more with being treated for Asthma than being diagnosed with Celiac.

    1. Jess Post author

      Hi Tammy,
      I was not aware of the association between asthma and celiac disease until I read this paper, although it makes sense as both conditions have been linked to the microbiome. I did a quick search on and did come across this reference showing that celiac disease increases the risk of asthma by 1.6x in adults:
      Interestingly enough, I did develop wheezing and symptoms of asthma out of the blue when I was 35, about 2.5 years after my celiac diagnosis. I was started on Flovent and albuterol. I thought that it was bizarre to have this problem pop up during middle age, as I had never had any breathing problems in the past. In my case, my wheezing and asthma symptoms were actually as the result of a totally different immune system problem called mast cell activation syndrome (MCASP) which I wrote about earlier this month (which based on my discussions with others, can travel hand in hand with celiac disease). Since starting on treatment for MCAS last year my wheezing and asthma symptoms have resolved 100%. I am not trying to say that all cases of adult onset asthma stem from MCAS, but it my case it was the underlying problem.

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  8. Stephanie

    Wondering if you have any additional information regarding celiac in children and the neurological side-specifically seizures? My healthy 11 yr old son started having seizures last summer and has since been diagnosed with “idiopathic” epilepsy. We simply couldn’t accept that it is unknown what is causing this so have done months of research and have ended up with possible celiac disease. Our neurologist has been of no help and even told me NOT to change his diet (despite my concerns and symptoms) and just medicate him. We are not medicating him and have switched to gf-waiting on blood work results.
    Any information you can provide would be appreciated.

    1. Jess Post author

      Hi Stephanie,
      I am pretty sure that we have connected by email since you posted this.
      Yes, both celiac disease and non celiac gluten sensitivity can be associated with seizures in both children and adults. Your son does need to have other causes of seizures ruled out (which it sounds like you are doing). I actually met a neurologist a while back who did not know what celiac disease is, I posted about it somewhere on here.
      If your son’s epilepsy is gluten-related, please let us know! In the meantime, let’s keep up by email.
      I hope you find answers.

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