Celiac Disease in Down's Syndrome with HLA Serological and Molecular Studies

Abstract

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.

The relation between the psychological functioning of children with Down syndrome and their urine peptide levels and levels of serum antibodies to food proteins

“…This report shows that children with Down syndrome have increased levels of antibodies to food proteins, and thus confi rms earlier fi ndings (Kanavin et al, 1988;Reichelt KL et al, 1994;Bonamico et al, 1996;Failla et al, 1996;George et al, 1996;Gale et al, 1997;Carlsson et al, 1998). No studies have investigated whether siblings also have increased levels of serum antibodies to food proteins.…”

“…As Marsh (1995, p.12) stated, "gluten sensitivity should be considered as a state of heightened immunological responsiveness (T-and B-cell-based) to ingested gluten proteins in genetically-predisposed individuals". It is also important to remember that the frequency of celiac disease in people with Down syndrome is much higher than in the general population (Failla et al, 1996;George et al, 1996;Gale et al, 1997;Morris et al, 1997;Carlsson et al, 1998). A connection between gluten sensitivity and neurological disorders has been reported for patients with celiac disease (Gobbi et al, 1992;Kinney et al, 1982;Cooke & Smith, 1966;Bhatia et al, 1995), as well as for patients with neurological dysfunction of unknown cause (Gobbi et al, 1992;Hadjiwassiliou et al, 1996).…”

“…Increased serum levels of antibodies to food proteins in people with Down syndrome (Kanavin et al, 1988;Reichelt KL et al, 1994;Bonamico et al, 1996;Failla et al, 1996;George et al, 1996;Gale et al, 1997;Carlsson et al, 1998), point to an increased transmucosal uptake of proteins from the gut (Scott et al, 1984). Increased uptake of proteins combined with peptidase defi ciencies would result in hyperpeptidaemia and usually hyperpeptiduria.…”

IGG Antibodies to Beta-Lactoglobulin and Cow's Milk Protein Intolerance in Down Syndrome

“…Our most interesting result is the 100% specificity of IgG antibodies to beta-lactoglobulin for the diagnosis of CMPI and the increased frequency below age 5 years. IgG antibodies to beta-lactoglobulin behave differently from antigliadin antibodies which, as reported recently (Failla et al, 1996;Bonamico et al, 1996), are common in people with Down syndrome, but have low specificity for the diagnosis of coeliac disease. …”

Are Down’s syndrome patients a risk group for celiac disease?

“…The large discrepancy in the obtained results is mostly due to the size of the studied groups. The very high incidence of celiac disease observed by some authors in Down's syndrome patients (from 10.3% to even 18.6%) was obtained only in studies conducted on small or very small groups of patients (from 25 to 97 people) [23,26,29,33,39,45]. In one of the studies, the diagnosis of T Ta ab bl le e I I. .…”