In 2012, the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) revised their guidelines for the diagnosis of celiac disease. These guidelines have set out criteria that, if met completely, can be used to diagnose a pediatric patient with celiac disease without an endoscopy and biopsy, due to the incredibly high likelihood that this patient has celiac disease. In order to meet this criteria, the patient must:

1. Show classic symptoms suggestive of celiac disease. This includes weight loss, diarrhea, malabsorption, short stature.

2. Have an anti-tissue transglutaminase antibody (tTG) value that is 10 times the upper limit of normal (ULN). (Note: labs use different testing kits which each have different ULNs, so values may not be comparable between labs)

3. Have a positive anti-endomysial antibody (EMA) blood test.

4. Be genetically at risk for disease, having HLA DQ2 and/or HLA DQ8 genes.

It’s very important to note that if the patient does not meet ALL four parts of this criteria, he or she MUST have an endoscopy with biopsy in order to be diagnosed with celiac disease.

The authors also emphasize that medical providers should NOT encourage patients to begin a gluten-free diet without completing ALL steps of the testing required to make a diagnosis. If a patient is already gluten-free, it’s strongly recommended that they undergo a gluten challenge (reintroduction of gluten) while being carefully monitored by their provider.

In addition to these specific criteria and guidelines, the doctors and researchers who developed them also created guidelines that outline which areas of the intestine the biopsies should be taken from during an endoscopy and how they should be read by pathologists. This is important because currently not all doctors and researchers have the same practices when it comes to taking small intestinal biopsies, reading the biopsies and determining a patient’s diagnosis.

Now that the ESPGHAN guidelines have been implemented for over three years, researchers have studied the impact they are having on patient care. For example, researchers have identified the following challenges that providers are faced with when attempting to implement the ESPGHAN guidelines:

• Implementing guidelines that require all physicians to take biopsies from the recommended areas of the small intestine is very difficult. It’s also been a challenge for different pathologists to read and interpret the biopsy results using a standardized set of criteria.
• It’s very important that all providers understand that in order to forgo a biopsy, the patient must meet all four criteria. Simply meeting just two or three is not enough to determine whether a person truly has celiac disease.
• Because the symptoms of celiac disease vary and can easily be confused with other conditions, some providers may find it difficult to define what truly counts as “symptomatic.”
• The celiac disease field does not have a standard way for defining a positive or negative celiac disease blood tests. The upper limit of normal (ULN) in tTG testing varies between labs and testing kits and each EMA test must be read by a trained professional. As a result of these challenges, there is a greater potential for error.
• The definition for a “gluten challenge” is not widely agreed upon. For example, there is not a standard length of time for how long a person should go on a gluten challenge or even how much gluten should be consumed during a gluten challenge. This means that there is no way to be sure that a true celiac disease diagnosis has not been missed because of an improper gluten challenge.

This research is only possible through participation of people like you living with celiac disease, as well as your family and friends without celiac disease. Your help allows researchers to learn more about celiac disease, while information shared by your family and friends helps researchers to compare study findings to the general population. If you are interested in learning more about current and future celiac disease research, NFCA encourages you to sign up for Beyond Celiac:™ NFCA’s Research Opt-In.