Screening for celiac disease in Down’s syndrome patients revealed cases of subtotal villous atrophy without typical for celiFac disease HLA-DQ and tissue transglutaminase antibodies

Table 1 Comparative frequency of different karyotypes among 134 Down’s syndrome patients and the incidence of EMA, anti-tTG, AGA, and celiac disease in these patients

Karyotype groups	No. of patients	No.with positive AGA	No. with positive anti-tTG(guinea Pig antigen)	No. with positive anti-tTG(human antigen) and EMA	No. with celiac disease
Regular trisomy	124	54	8	4	4
Translocation	7	1	0	0	0
Mosaicism	3	0	0	0	0
Total	134	55(41.0%)	8(6.0%)	4(3.0%)	4(3.0%)

Table 2 Profile of 12 Down’s syndrome patients (all with regular trisomy) invited for small bowel biopsy

Patient No.	Age(yr) sex	Symptoms	Small bowel biopsy	IgA AGA	IgG AGA	IgA SMA	IgA EMA	IgA anti-gptTG	IgA anti-htTG	HLA-DQB1 *0201	HLA-DQA1 *0501
6	0.9F	+#	SVA	-	-	+	-	-	-	-	+
10	13M	+##	SVA	+	+	-	-	-	-	-	-
18	10M	-	Norm.	+	+	-	-	+	-	-	-
59	1M	+##	SVA	+	+	+	-	-	-	-	-
7	5M	+###	SVA	-	-	-	+	+	+	+	+
91	40F	+####	n.d.	+	+	-	+	+	+	+	+
92	17M	+####	n.d.	+	+	+	+	+	+	+	+
96	18F	+##	SVA	+	+	+	-	-	-	-	-
97	8M	-	Norm.	-	+	-	-	-	-	n.d.	n.d.
98	7F	-	Norm.	-	+	-	-	-	-	n.d.	n.d.
105	9M	+####	n.d.	+	+	+	+	+	+	+	+
130	3F	-	Norm.	-	+	-	-	-	-	n.d.	n.d.

Numbers in bold denote positive values in antibody tests; SVA – subtotal villous atrophy; Norm. – normal mucosa; n. d. – studies not done (biopsy procedure was denied). # - symptoms did not disappear during the four-year gluten-free diet – CD was not diagnosed. ## - symptoms disappeared after introduction of gluten-free diet – CD was not diagnosed due to lack of anti-htTG and HLA-DQ2. ### - symptoms disappeared after introduction of gluten-free diet – CD was diagnosed by morphology data (by ESPGHAN criteria). #### - symptoms disappeared after introduction of gluten-free diet – CD was confirmed without morphology data.