Coeliac disease as the cause of resistant sideropenic anaemia in children with Down's syndrome: case report.

Introduction: Coeliac disease (CD) is a permanent intolerance of gluten, i.e., of gliadin and related proteins found in the endosperm of wheat, rye and barley. It is characterized by polygenic predisposition, autoimmune nature, predominantly asymptomatic or atypical clinical course, as well as by high prevalence in patients with Down's syndrome (DS) and some other diseases.

Outline Of Cases: We are presenting a girl and two boys, aged 6-7 (x = 6.33) years with DS and CD recognized under the feature of sideropenic anaemia resistant to oral therapy with iron. Beside mental retardation, low stature and the morphological features characteristic of DS, two patients had a congenital heart disease; one ventricular septal defect and the other atrioventricular canal. In two patients, trisomy on the 21st chromosome pair (trisomy 21) was disclosed in all cells, while one had a mosaic karyotype. All three patients had classical laboratory parameters of sideropenic anaemia: blood Hb 77-89 g/l (x = 81.67), HCT 0.26-0.29% (x = 0.28), MCV 69-80 fl (x = 73), MCH 24.3-30 pg (x = 26.77) and serum iron 2-5 micromol/L (x = 4.0). Beside anaemia and in one patient a mild isolated hypertransaminasemia (AST 67 U/l, ALT 62 U/l), other indicators of CD were not registered in any of the children. In addition, in all three patients, we also detected an increased level of antibodies to tissue transglutaminase (atTG) of IgA class (45-88 U/I) so that we performed endoscopic enterobiopsy in order to reliably confirm the diagnosis of CD. In all three patients, the pathohistological finding of the duodenal mucosa specimen showed mild to moderate destructive enteropathy associated with high intraepithelial lymphocyte infiltration, cryptic hyperplasia and lympho-plasmocytic infiltration of the stroma. In all three patients, the treatment with a strict gluten-free diet and iron therapy applied orally for 3-4 months resulted in blood count normalization and the correction of sideropenia. Serum level of the atTG-IgA, repeated after a 12-month diet, was also normal.

Conclusion: 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.