Abstract
BackgroundThe 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 presentationWe 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.ConclusionsThis 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.
Highlights
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 at this age and the many other possible causes of malabsorption in infants
This case report highlights the utility of anti-Deamidated gliadin peptides (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
Summary
This case report highlights the utility of IgG anti-DGPs for screening infants with suspected coeliac disease. Some of the children who develop CD at this age, might have an immature adaptive immune response with the sole production of anti-DGPs even in the presence of villous atrophy, as was the case in our patient. We suggest that the serologic pattern with DGP-positive/tTG-negative antibodies in an infant with consistent symptoms and HLA DQ2/DQ8 haplotype should prompt a duodenal biopsy to rule out CD. Further studies are needed to provide a more detailed evaluation of this serologic pattern in IgA-competent children with celiac disease
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