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Coeliac disease in infants: antibodies to deamidated gliadin peptide come first!
Michele Arigliani1, Francesca Rech Morassutti2, Martina Fabris3
1Department of Clinical and Experimental Medical Sciences, Unit of Pediatrics, University Hospital of Udine, Piazzale S. Maria Misericordia 1, 33100, Udine, Italy. michelearigliani@gmail.com.
Insights
Antibodies to deamidated gliadin peptides (anti-DGPs) are useful for diagnosing coeliac disease (CD) in infants. This case report shows anti-DGPs can aid early CD diagnosis when other tests are negative.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Genetics
Background:
- Coeliac disease (CD) diagnosis in infants is challenging due to low antibody sensitivity and overlapping symptoms with other malabsorption disorders.
- Antibodies to deamidated gliadin peptides (anti-DGPs), particularly IgG, may be detected earlier than IgA anti-tissue transglutaminase (tTG) in young children with CD.
Purpose of the Study:
- To highlight the diagnostic utility of anti-DGPs in an infant with suspected coeliac disease.
- To present a rare case of biopsy-proven CD in an infant with a unique antibody profile.
Main Methods:
- Case report of an 8-month-old infant presenting with failure to thrive, constipation, and developmental delay post-gluten introduction.
- Laboratory evaluation included fecal elastase, IgA, anti-DGPs (IgG and IgA), and anti-tTG antibodies.
- Duodenal biopsy, genetic testing (HLA-DQ2/DQ8), and response to a gluten-free diet were assessed.
Main Results:
- The infant showed high fecal elastase, normal IgA, positive IgG and IgA anti-DGPs, and negative anti-tTG.
- Duodenal biopsy confirmed complete villous atrophy (Marsh-Oberhuber 3C).
- Genetic testing revealed HLA-DQ2 and HLA-DQ8 positivity. Symptoms resolved, and development normalized on a gluten-free diet.
Conclusions:
- Anti-DGPs are valuable for screening infants with suspected CD, especially when anti-tTG is negative.
- The isolated positivity of IgG and IgA anti-DGPs in an IgA-competent child with biopsy-proven CD is rare and may be attributed to immune system immaturity in infancy.
Background:
The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD.
Case Presentation:
We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay. The symptoms started following gluten introduction in the diet. Laboratory tests showed high fecal elastase concentration, normal serum IgA levels with positive IgG and IgA anti-DGPs, whereas anti-tTG were not detected. The duodenal biopsy revealed a complete villous atrophy (Marsh-Oberhuber 3C). The culture of biopsy fragments in the presence of gliadin peptides did not stimulate the production of IgA anti-endomysial antibodies. Genetic testing proved the child was positive for HLA-DQ2 (DQA1*05; DQB1*02) and HLA-DQ8 (DQA1*03, DQB1*0302). Having initiated the gluten-free diet, the symptoms disappeared and the infant experienced rapid catch-up growth with normalization of psychomotor development.
Conclusions:
This case report highlights the utility of anti-DGPs for screening infants with suspected CD. The pattern with positivity for IgG and IgA anti-DGPs only is rare in IgA-competent children with biopsy-proven CD. It could be explained in infancy as immaturity of the adaptive immune system.
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