Symptoms of celiac disease in children: what they are and how to recognize them

Symptoms of celiac disease in children: what they are and how to recognize them

Publication date: 09-03-2023

Updated on: 09-03-2023

Topic: Pediatrics

Estimated reading time: 1 min

In Italy, 1% of the population suffers from celiac disease, a permanent intolerance to gluten triggered by an autoimmune mechanism that typically arises in pediatric age (1-18 years) , but can appear even later, and affects the female gender more. 

It is a chronic condition that leads to malnutrition and thus interferes with children's weight and growth, selective malabsorption of certain minerals and vitamins that can lead to disease conditions, so it should be diagnosed strictly before starting a gluten-free diet.

We discuss this with Dr. Graziano Barera, Head of neonatology and pediatrics departments at Ospedale San Raffaele and a specialist in pediatric gastroenterology.

What is celiac disease?

Celiac disease is a permanent intolerance to gluten, defined by strict diagnostic criteria that differentiate it from other forms of poor tolerance, such as gluten and wheat allergy, and such as non-celiac, non-allergic gluten intolerance. 

It has an autoimmune trigger mechanism that results in gut damage that can only be stopped by discontinuing gluten intake.

Symptoms of celiac disease in children

There are 2 basic ways in which celiac disease manifests in children: 

  • celiac disease with gastrointestinal manifestations involving poor growth, distended abdomen, diarrhea, vomiting, differently combined symptoms with children presenting with descending growth parabolas in terms of nutritional appearance and weight;
  • atypical celiac disease with manifestations absent or referable to organs other than the intestine with children presenting with: poor growth, iron or folic acid anemia not justified and not responsive to iron therapy.

Another possibility is autoimmune manifestations in other areas, which, knowing that they may be associated with celiac disease, should be examined: for example, in children with type 1 diabetes, it is a good idea to proceed with antibody dosing; so are individuals with thyroiditis or alopecia areata and children with other specific conditions, such as Down syndrome or Turner syndrome.

Blood tests for celiac disease and antitransglutaminase antibodies

Diagnosis of celiac disease should be performed rigorously by following international protocols through specific blood tests and possibly by gastroscopy with biopsy samples when necessary.

The celiac disease-specific antitransglutaminase antibody assay, when evidenced with a high value, is the most appropriate blood test to be performed for the suspected diagnosis of celiac disease. This screening should always be combined with determination of total immunoglobulin IGA for a mechanism of control and reliability.

In the pediatric population, if these antibodies are negative, no further testing is done because celiac disease is highly unlikely in children if these values are negative.

Conversely, once positivity for antibodies is found, the diagnosis should be refined in accordance with the antibody titer value: 

  • if the antitransglutaminase antibody value is > 10 times the upper reference limit, confirmation by a second test for determination of antiendomysium antibodies and HLA typing aimed at finding predisposing haplotypes (HLA DQ 2/ DQ8) is sufficient;
  • in the presence of insufficiently elevated antitransglutaminase values (˂ 10 times the reference index), a gastroscopy is necessary to perform multiple duodenal biopsies and allow, on anatomo-pathological analysis, the search for the characteristic alterations that allow the diagnosis to be made.

Although they may seem complicated and troublesome to a parent, these examinations are usually well tolerated and accepted by children and guarantee extreme stringency, essentially 100%.

Treatment of celiac disease: the gluten-free diet

The gluten-free diet should be started only after diagnostic confirmation, because eliminating gluten from the child's diet leads to the negativisation of tests and resolution of symptoms, compromising a subsequent diagnosis certainty.

In addition to the pediatrician, it is helpful for the family to be supported by a dietitian(s) who can help in the implementation of an appropriate diet plan. In fact, gluten must be strictly avoided from reaching the celiac's plate so that efforts are not in vain. Normally, in individuals on a strict gluten-free diet, anti-transglutaminase antibodies become negatized with recovery of intestinal and metabolic functions.

Because the autoimmune mechanism that triggers this condition can promote autoimmunity in other body areas, even as adults, people with celiac disease will need to pay attention to their health by monitoring other organs that may be more prone to autoimmunity.

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