How to Screen, Test and Diagnose Celiac Disease

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If you suspect you or a family member have celiac disease, this article, How To Screen for, Test and Diagnose Celiac Disease, will help you navigate your next steps. This article was written by dietitian Tiffany Torok, MA, RDN, who has a pediatric celiac practice and celiac disease. Tiffany provides insight and guidance on how to navigate a possible diagnosis of celiac disease.

Butterfly in hand.

Although celiac disease is considered one of the common autoimmune conditions, it is still not as common as other conditions that can mimic the disease, such as irritable bowel syndrome or non-celiac gluten sensitivity.

Currently, the only treatment is lifelong adherence to a strict gluten-free diet, however adjunct therapies, as well as potentially curative treatments that act on the immune system are currently in development.

That is the main reason why it is essential to get an accurate diagnosis because these treatment options that are currently being researched for celiac disease will only be available and appropriate for individuals who have an official diagnosis of celiac disease.

Books and Resources for Celiac Disease

These are our favorite books to help guide you.

Who Should Get Screened for Celiac Disease

Some at-risk groups of individuals should be screened periodically and get celiac testing done. These groups include individuals with risk factors known to increase the risk of developing celiac disease, such as Down syndrome, and individuals who are first-degree relatives of people who have received an official celiac disease diagnosis.

If a family member has celiac disease, there is a possibility you may have it as well. A first-degree family member of an individual who has been diagnosed with celiac disease is at a much higher risk of developing the disease at some point in their life than the general public. So what should you do if you suspect that you or a family member has celiac disease?

Diagnosing Celiac Disease.

What Is Celiac Disease?

Celiac disease is a lifelong autoimmune disorder that is triggered by the ingestion of gluten in genetically susceptible individuals. Untreated celiac disease can cause numerous health problems, including intestinal cancer, nutritional deficiencies, and malnutrition. The symptoms of celiac disease can range from silent to debilitating and can include diarrhea, abdominal pain, headaches, and brain fog.

What Type of Doctor Should You Go To?

1. If you suspect you or your child has celiac disease, or if a close relative was recently diagnosed, the best place to start is at your primary care physician’s office. They will do a physical exam and likely order some blood tests.

2. The next step towards diagnosis would be a referral to a gastroenterologist who will review your celiac disease blood test and determine if an upper endoscopy is required. If so, a small, flexible tube with a tiny camera will be inserted through your mouth and into your digestive tract while under sedation. A tissue sample will be taken from a small intestine biopsy.

3. After that, depending on your diagnosis and treatment, you may be referred to a registered dietitian for medical nutrition therapy to treat whatever condition you were diagnosed with. This is an essential step in treatment because currently, the only way to treat celiac disease is with lifelong adherence to a strict gluten-free diet, avoiding cross-contact, and registered dietitians have the extensive training necessary to provide the education needed to set you up for success after diagnosis.

Types of Celiac Blood Testing

  • 1. What is a Celiac Blood Panel? – a simple blood test that includes a celiac disease antibody test along with correlating immunoglobulins to check for antibody levels associated with celiac disease Endomysial antibody – this test is an IgA-specific antibody that is shown to be highly specific for celiac disease (2).TTG-IgA test – the tissue transglutaminase IgA autoantibody is another primary antibody produced by the body in active celiac disease and is responsible for intestinal damage (3)TTG-IgG test – tests for IgG antibodies, which are a different type of antibody than IgA, which helps to diagnose celiac disease when someone has IgA deficiency, which can sometimes occur with celiac disease
  • Endomysial antibody – this test is an IgA-specific antibody that is shown to be highly specific for celiac disease (2).
  • TTG-IgA test – the tissue transglutaminase IgA autoantibody is another main antibody produced by the body in active celiac disease and is responsible for intestinal damage
  • TTG-IgG test – tests for IgG antibodies, which are a different type of antibody than IgA, which helps to diagnose celiac disease when someone has IgA deficiency, which can sometimes occur with celiac disease

Genetic Testing for Celiac

HLA genetic testing – HLA stands for human leukocyte antigens. HLA-DQ2 and HLA-DQ8 are associated with celiac disease, however they are also found in up to 30% of the worldwide population, but only 1-3% go on to develop the disease. Genetic tests should only be performed to clarify borderline cases (4).

Diagnosis and Screening for Celiac Disease.

Upper Endoscopy with Tissue Samples

While the patient is under sedation, a gastroenterologist examines the lining of the small intestine with a small camera that is advanced slowly through the first part of the digestive tract. The doctor then takes tissue samples to send off for analysis to look for villi damage typically seen with celiac disease and positive blood test results.

Should You Go Gluten-Free Before Testing?

  • Although it is tempting to eliminate gluten from your diet after reading an article on the internet and deciding that you fit the description of celiac disease, keep in mind that celiac disease has over 300 known celiac disease symptoms and that it can mimic several other diseases which means that you may suspect you have celiac disease when in fact, you have another condition with a different treatment.
  • Additionally, suppose you remove gluten from your diet before testing. In that case, you may receive a false negative blood test or false intestinal biopsy and be told that you don’t have celiac disease when, in fact, you do.
Celiac Disease Testing and Screening with Families.

Celiac Testing in Children Under the Age of Three

Toddlers and children under the age of around two or three pose a unique challenge in the diagnosis of celiac disease because their immune systems are not fully developed yet. This means that their antibody tests may not be accurate.

To help confirm a diagnosis, a deamidated gliadin peptide test is done along with the antibodies and a total IgA (5). Additionally, if the child is a first-degree relative of someone who has celiac disease, serological markers may be done and discussed with the doctor without performing an upper-endoscopy to confirm the diagnosis.

Butterfly in hand.

Tiffany Torok’s Celiac Diagnosis Story

When I was diagnosed about 17 years ago, I underwent endoscopy first and then followed up with blood tests to confirm the diagnosis. However, my very experienced gastroenterologist could tell immediately what was going on. By the time I was formally diagnosed, I had complete villus atrophy and severe crypt hyperplasia in my intestine. There was no denying that I had celiac disease. However, that is not always the case, even in my family.

My son, for example, never tolerated the introduction of wheat products into his diet, and we were never able to get a diagnosis. We raise him with the awareness that gluten makes him sick, and that he probably has celiac disease, and when he is old enough to find out on his own, he can make that choice.

My daughter ate small amounts of gluten daily until she was three when she started experiencing very obvious steatorrhea and abdominal pain. Her blood tests were unfortunately inconclusive because her IgA was low, and her endoscopy was negative. After discussing it with her gastroenterologist, we concluded that we should raise her with the same awareness as our son. It just shows you that not one experience is the same, even in the same family; however, getting as accurate an answer as possible is essential for your and your family’s health.

Frequently Asked Questions about Diagnosing Celiac

Are Celiac Blood Tests Accurate?

No one celiac disease blood test is 100% accurate. This can be due to numerous factors. Some individuals stop eating gluten or reduce their gluten consumption before they get tested, which can cause their antibody levels to be too low to detect in their blood. Another cause of a false negative is an immune deficiency, which can sometimes occur with celiac disease or other autoimmune diseases, especially IgA deficiency.

Lastly, there is always the factor of human error in lab testing, which can cause the sensitivity of the test to not be accurate enough to pick up the antibodies. As reported in the American College of Gastroenterology, the sensitivity of celiac blood tests ranges from 63-93% (1). This is the reason there are several tests that are run concurrently to detect celiac disease, in addition to a follow up endoscopy.

I hope you enjoyed this article How to Screen, Test and Diagnose Celiac Disease. Let us know your thoughts in the comment section below!


1. Rubio-Tapia, Alberto MD1; Hill, Ivor D. MD2; Semrad, Carol MD3; Kelly, Ciarán P. MD4; Greer, Katarina B. MD, MS5; Limketkai, Berkeley N. MD, PhD, FACG6; Lebwohl, Benjamin MD, MS7. American College of Gastroenterology Guidelines Update: Diagnosis and Management of Celiac Disease. The American Journal of Gastroenterology 118(1):p 59-76, January 2023. | DOI: 10.14309/ajg.0000000000002075

2. Kurppa K, Räsänen T, Collin P, Iltanen S, Huhtala H, Ashorn M, Saavalainen P, Haimila K, Partanen J, Mäki M, Kaukinen K. Endomysial antibodies predict celiac disease irrespective of the titers or clinical presentation. World J Gastroenterol. 2012 May 28;18(20):2511-6. doi: 10.3748/wjg.v18.i20.2511. PMID: 22654448; PMCID: PMC3360449.

3. Büchold C, Hils M, Gerlach U, Weber J, Pelzer C, Heil A, Aeschlimann D, Pasternack R. Features of ZED1227: The First-In-Class Tissue Transglutaminase Inhibitor Undergoing Clinical Evaluation for the Treatment of Celiac Disease. Cells. 2022 May 17;11(10):1667. doi: 10.3390/cells11101667. PMID: 35626704; PMCID: PMC9139979.

4. Sciurti M, Fornaroli F, Gaiani F, Bonaguri C, Leandro G, Di Mario F, De’ Angelis GL. Genetic susceptibilty and celiac disease: what role do HLA haplotypes play? Acta Biomed. 2018 Dec 17;89(9-S):17-21. doi: 10.23750/abm.v89i9-S.7953. PMID: 30561391; PMCID: PMC6502200.

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