Celiac disease (CD) is a common and well defined autoimmune disorder caused by gliadin and related proteins of wheat, rye, and barley. Epidemiologic studies confirmed that CD is highly associated with other autoimmune diseases and with Down syndrome (DS). The symptomatic form of CD in patients with DS is more frequent than asymptomatic forms. However, growth impairment, anemia, intermittent diarrhea, and constipation are symptoms and signs typically of children with DS without CD. Late identification of the disease can lead to various complications, sometimes even very severe. Therefore, systematic screening for CD is essential in the management of children and adolescents with DS. Many medical organizations recommend screening in this group of patients. However, current policy statements vary in their recommendations for screening and there is still a need for establishing uniform diagnostic criteria.

The coexistence of Down syndrome (DS) and celiac disease (CD) has been reported in many studies. In our study, we examined 82 children with DS aged 8 months to 8.6 years for the existence of CD using serological markers immunoglobulin A (IgA) and immunoglobulin G (IgG) transglutaminase antibodies, followed by follow-up determination of total IgA levels. In four children who were positive for one of the above-mentioned antibodies, enteric biopsy has been performed that showed absence of CD. Our findings raise doubt about the need for obligatory serological screening of children with DS aged <8 years.

CD should be taken into consideration in all cases of sideropenic anaemia resistant to iron oral therapy in children with DS.The diagnosis of CD implicates corresponding pathohistological confirmation, while the treatment of sideropenic anaemia and its complications, beside iron preparations, also requires compliance with a gluten-free diet.

Celiac disease (CD) is an immune-mediated enteropathy induced by gliadin and related prolamins. This study was designed to evaluate the correlation between the degree and uniformity of mucosal damage and forms of CD. The study included a total of 85 children (33 boys and 52 girls, mean age 6.59 years) hospitalized due to CD. Patients were assigned to one of three groups based on their form of disease manifestation: (1) patients with classical form; (2) patients with atypical form; and (3) patients with asymptomatic celiac disease. The diagnosis of CD was based on positive CD specific antibodies, HLA typing and histological analysis of multiple biopsy samples. Histological changes were classified using modified Marsh criteria. Forty one patients had classical form, 32 had atypical form, while 12 patients had asymptomatic form of celiac disease. There was no difference in the degree of damage on small bowel samples between different clinical forms of celiac disease (p=0.079). The frequency of uniformity of enteropathy does not depend on clinical form of the disease (p=0.882). Uniform small bowel mucosal damage was more common in cases of severe degree of mucosal damage (p=0.017). The degree of damage and uniformity of changes in duodenal biopsy specimens did not correlate with mode of presentation, while uniform mucosal damage increased with severity of enteropathy.