Celiac disease in Down's syndrome with HLA serological and molecular studies

The association between Down's syndrome (DS) and celiac disease (CD) has been confirmed by several authors. The sensitivity and specificity of antigliadin antibodies (AGAs), the clinical features of subjects with DS and CD (DS-CD+), the incidence of CD, and the results of serological and molecular class I and II HLA typing were determined in a sample of 57 Sicilian subjects with DS. Six (10.5%) and 17 subjects (29.8%) showed high levels of IgA AGAs and IgG AGAs, respectively. AGAs sensitivity and specificity were lower than in the population without DS. Ten people with DS were submitted to jejunal biopsy, and seven (12.2%) showed CD according to ESPGAN criteria. All seven patients were put on gluten-free diet, followed by rapid disappearance of symptoms. Class I and II HLA serological and molecular typing was carried out in seven DS-CD+ subjects, 22 people with DS without CD (DS-CD-), five subjects with CD without DS, and 20 controls. Between DS-CD+ and DS-CD- subjects, no statistically significant difference regarding serum HLA class I antigens was found. DQA1*0101 allele appears significantly in DS-CD+ patients and deserves to be searched for in a larger sample to assess its meaning in the DS-CD association.