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Celiac Disease

Alan Ehrlich, MD and Paul Simmons, MD

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Gluten “intolerance” is all the rage, but how can we evaluate our patients’ concerns while differentiating from celiac disease? Paul Simmons dives into diagnosis and treatment of celiac disease with Dr. Alan Ehrlich, Editor of DynaMed and someone who knows quite a bit about this condition, both personally and professionally.


  • Consider Celiac disease in a wide range of patients, not just those with GI symptoms.

  • Get people tested while they are on a gluten-diet so you can actually establish the diagnosis.

  • Treatment is a gluten-free diet. See a nutritionist. Following the diet is challenging and can have profound effects on lifestyle considerations.


  • Gluten:

    • Gluten is a storage protein found in wheat, barley and rye that is left if you were to rinse flour with water

      • Wheat - gliadins

      • Barley - hordein

      • Rye - secalin

  • Celiac disease:

    • Autoimmune Ig-A mediated disease where the body develops antibodies to gluten proteins that lead to serious adverse health consequences if untreated.

      • All-cause mortality increased

      • Higher risks of:

        • Intestinal lymphoma

        • All forms of non-Hodgkin’s lymphoma

        • End-stage renal disease

      • Adverse effects on pregnancy (stillbirth, intrauterine growth restriction, recurrent miscarriage)

      • Celiac ataxia

    • Pathophysiology: In the presence of gluten you get inflammatory response that leads to loosening of tight junctions between cells that then leads to further leakage of these inflammatory proteins. This leads to further damage. Furthermore, the antibodies destroy the intestinal villi and lead to flattening of the villi.

    • Genetic component

    • Related to other autoimmune disorders (Hashimoto’s thyroiditis, Type 1 diabetes)

    • NOT an allergy (ie: wheat allergy that is Ig-E mediated)

  • Classic symptoms and groups to be thinking about:

    • Cyclic nausea and vomiting

    • Symptoms of functional intestinal disorders

    • Autoimmune thyroiditis and hepatitis

    • Unexplained elevated LFTs

    • Type 1 diabetes

    • Certain types of congenital disorders like Down Syndrome

    • Symptoms from malabsorption:

      • Iron deficiency anemia

      • Osteoporotic fractures

  • Diagnosis:

    • If patient is symptomatic, start with anti-tissue transglutaminase (anti-TTG IgA test) that is often done with total IgA because those with IgA deficiency may have falsely low results. People with Celiac are more likely to have IgA deficiency.

      • If anti-tissue transglutaminase is > 2x upper limit of normal, then get duodenal biopsy.

      • If anti-tissue transglutaminase is NOT > 2x upper limit but elevated, you can draw an IgA for endomysial antibody that is specific to Celiac disease. If IgA endomysial antibody is negative, then continue to follow and consider re-test with symptoms.

      • If anti-tissue transglutaminase is negative, observe and follow IgA’s over time to confirm

      • If you have IgA deficiency, you can do IgG on the tissue glutaminase or IgG for damaged glycopeptides

    • If you are seeing an asymptomatic person whose relative has Celiac, you can start with genetic testing for HLA-DQ2 and HLA-DQ8. If you don’t have them, then you will not get Celiac’s disease.

    • Pearl: You cannot establish a diagnosis if someone is on a gluten-free diet. They will need to go back on a gluten diet for six weeks.

    • Other testing:

      • TSH

      • CBC

      • DEXA for those over 30

      • Ultrasound looking for functional hyposplenism that Celiac can cause (unsure etiology)

  • Non-Celiac gluten sensitivity:

    • Ig-E mediated wheat allergy that may present as eosinophilic esophagitis or eosinophilic gastritis

    • Criteria - abdominal pain, bloating, bowel problems that improve with gluten-free diet and reappear after gluten challenge

    • Do not have the same extra-intestinal manifestations as those with Celiac

  • Treatment:

    • Gluten-free diet (<20 parts per million of gluten)

      • 20-25% of people will still have symptoms attributable to Celiac disease

      • Very difficult to follow the diet and not be accidentally exposed

    • Referral to nutritionist

    • People vary in their sensitivity to gluten and what triggers symptoms (ie: using the same pots/pans, separate toasters)

    • Steroids may be needed occasionally to calm the treatments

    • Supplementation

      • Vitamin D

      • Iron

      • B12

      • Folic acid

  • Other resources:

    • Support groups

      • Celiac Disease Foundation

      • Gluten Intolerance Group

    • Apps

      • Find Me Gluten Free



  1. Rubio-Tapia A, et al. American College of Gastroenterology. ACG clinical guidelines: diagnosis and management of celiac disease. Am J Gastroenterol. 2013;108(5):656-677. PMID: 23609613

  2. AGA Institute. AGA Institute Medical Position Statement on the Diagnosis and Management of Celiac Disease. Gastroenterology. 2006;131(6):1977-1980. PMID: 17087935

  3. Rostom A, et al. American Gastroenterological Association (AGA) Institute technical review on the diagnosis and management of celiac disease. Gastroenterology. 2006;131(6):1981-2002. PMID: 17087937

  4. Husby S, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease [published correction appears in J Pediatr Gastroenterol Nutr. 2012 Apr;54(4):572]. J Pediatr Gastroenterol Nutr. 2012;54(1):136-160. PMID: 22197856

Stephen P. -

why not use genetic test for symptomatic pt?

Neda F., MD -

Hi Stephen. Paul Simmons checked in with Dr. Ehrlich, and here is Dr. Ehrlich's response to your question: "It is important to understand the purpose of a given test. The gene test is most useful for ruling out celiac disease. Of all those who are positive for the gene, only 2%-5% will ultimately develop celiac disease. Therefore, a positive test does not help in establishing that someone has celiac disease.. A negative test is useful for saying they do not, since virtually all patients with celiac disease are positive for the gene.

Most clinicians use the gene test in people at risk for celiac disease, such as first degree relatives, and if the test is negative, they do not need to worry about getting celiac disease later in life. It can also be used as part of the diagnostic process in someone who is already on a gluten free diet and is reluctant to reintroduce gluten. It can also help if the serology is negative, but the biopsy is equivocal, or any situation where there is discordance between the serology and the histology."

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Hippo Primary Care Written Summary July 2021 248 KB - PDF

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