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Celiac Disease: Part One

Ann Dietrich, MD, Solomon Behar, MD, and Mary Shull, MD

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Tags celiac ยท GI

Ann and Sol discuss the symptoms and diagnosis of celiac disease with Mary Shull, a pediatric GI doctor who herself is afflicted by the condition.


  • Celiac disease is an autoimmune disease that occurs in genetically susceptible persons after the ingestion of gluten

  • Initial workup for celiac disease should include a tissue transglutaminase antibody (anti-tTG) and a serum IgA level.

  • If a patient has a positive tTG antibody, that patient should continue a regular diet, with gluten, until seen by a pediatric GI physician and biopsies can be done.  Once gluten is removed, the intestines will start to heal and the biopsy can be falsely negative.


  • How do patients with celiac disease present?  The presentation of celiac disease can be extremely variable.  The classic patient is between 1-2 years old, has a poor appetite and associated trouble gaining weight and height.  The patient usually has diarrhea and appears to have extremity wasting with a distended abdomen.  In extreme cases, patients may present in a celiac crisis with severe electrolyte abnormalities, hypoproteinemia and hypovolemia requiring ICU care.  Other patients may have only 1 or 2 symptoms.

    • While diarrhea is the most common GI complaint, uncontrolled constipation, nausea, vomiting, bloating and gassiness may also be presenting signs.

    • Non-GI symptoms associated with celiac disease include:

      • iron deficiency anemia,

      • aphthous ulcers

      • dental enamel hypoplasia.  

    • Neurologic presentations may include:

      • irritability in a younger child and/or behavioral problems,

      • anxiety,

      • depression,

      • ataxia and/or epilepsy in older children.  

    • Uncommon symptoms in pediatrics, but still possible, include:

      • delayed puberty

      • abnormal liver enzymes

      • arthritis

      • miscarriages or infertility in older patients     

    • Celiac is a very underdiagnosed disease.  It is estimated that for every one patient diagnosed, there are about 50 patients who have celiac but are not diagnosed.

  • What causes celiac disease?  Celiac disease is an autoimmune disease that occurs in genetically susceptible persons after the ingestion of gluten.  Therefore, susceptible infants do not develop the disease until solids with gluten are introduced.  After exposure, there is an immunological cascade leading to villous atrophy in the small intestines; in turn, this can decrease the absorption of nutrients.

    • Gluten is not found in breast milk, even if the mother has gluten in her diet.

    • Genetic predisposition and dietary exposure can lead to celiac disease; there is a thought that there may be a third “trigger factor” that also contributes.

      • Triggers that have been proposed include:

        • infections (rotavirus),

        • having another autoimmune disease (diabetes)

        • other stressful events such as pregnancy

      • In patients with autoimmune disease, there should be a high index of suspicion for celiac; even in asymptomatic patients.  Many patients will not notice the symptoms, as they have come to live with them as normal.

  • What are the genetic contributors?  Much of the genetics of celiac disease has to do with HLA typing; specifically 95% of patients with celiac disease have HLA DQ2.  The other 5% have HLA DQ8.  To date, there are over 40 genes and SNPs (single nucleotide polymorphism) associated with celiac disease.

  • How long does the gluten exposure need to be before diagnosis of celiac disease? Interestingly, more adults than children are diagnosed with celiac disease.  Although it can happen, generally children under 1 year of age are not diagnosed with celiac disease.  If a children between 12-18 months has been exposed to enough gluten, he/she may develop symptoms around this time.

  • When should testing for celiac disease be considered?  In a child presenting with 1-2 months of symptoms as described above, testing for celiac can be done.

  • How and when do you test for celiac disease?  If a child has had symptoms suspicious for celiac disease for 1-2 months, testing for celiac should be considered.  Testing is simple.  In children older than 2 years old, two tests should be sent:

    • A tissue transglutaminase antibody (anti-tTG)

    • Serum IgA level

The TTG ab is an IgA antibody, and therefore, in a patient with selective IgA deficiency the TTG may not be high, even if they have celiac disease.  Therefore, both must be sent.  There is a high percentage of children who have celiac and selective IgA deficiency.

    • To test for celiac in a patient who is IgA deficient, send the IgG antibodies which are not as accurate, but depending on the lab can be 95% sensitive and specific.  IgG antibodies include anti-tTG IgG or anti-endomysial IgG.  Referral to GI for endoscopy and biopsy should also be ordered for these patients.

    • In patients younger than 2 years old, in addition to the anti-tTG and serum IgA level, the deamidated gliadin IgG should also be sent.

  • Should any other labs be sent?  If inflammatory bowel disease is on your differential, it would make sense to send a CBC, CRP, ESR, CMP.  AST and ALT can sometimes be elevated in celiac disease as well.  Stool studies are not routinely sent.

  • Is an elevated tTG antibody enough to make the diagnosis of celiac disease? No, biopsy during an EGD confirms the diagnosis of celiac disease.  As the general pediatrician, it is very important that if the result comes back as an elevated tTG, to encourage your patients to keep gluten in their diet.  This is because the biopsy can be falsely negative after gluten has been removed from the diet, as the intestines start to heal in these patients.  

  • How long does it take to see histological changes once a gluten free diet has been initiated? This is a controversial question.  It probably takes week to months, in some patients perhaps up to 18 months, of the intestinal lining to heal.

  • Besides a gluten-free diet, are there other treatments for celiac disease? At this time, there are no approved medical treatments.  However, there is a lot of research into this topic.  Specifically, future therapies in the pipeline include a glutenase capable of breaking down proteins, a polymer that binds to gluten and gets it out of the body without being absorbed and a zonulin receptor antagonist (preventing the tight junctions between enterocytes to not be permeated).

    • The idea is that these pills could be taken prior to eating food that might be cross-contaminated with gluten and would prevent any long lasting effects from that small amount of ingested gluten.

    • Other potential disease modifying agents include a vaccine that could induce tolerance; this would likely be for a subset of patients with HLA DQ2.  The vaccine is in a phase 2 trial.  Biologic agents to target cytokines are also being explored.  These could potentially allow patients to eat a regular diet.

Editor’s note:  There are glutenase products currently on the market and available in drug stores; however, these have not been FDA approved and therefore cannot be safely recommended to patients.  For a list of complete therapies in the pipeline, click here.  

  • Are there risks of eating gluten after being diagnosed with celiac? While this is a controversial question, some studies have shown an increased mortality rate and an increased risk of enteropathy associated T-cell lymphomas.  There are some serious ramifications in addition to continuing to have ongoing symptoms.  There is not great data that states what percentage of those with celiac may develop these cancers.  The paper referenced below shows certain comorbidity trends.

    • In patients who have few symptoms, it can be difficult for them to be compliant with a gluten-free diet; but given potential complications, it should be enforced.

    • For a patient with celiac disease, he/she must be extremely strict and follow the gluten-free diet for life.

Lohi S. et al.  Prognosis of under recognized coeliac disease as regards to mortality: a population-based cohort study. Ann Med. 2009;41(7):508-15. PMID 19551537

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