The prevalence of coeliac disease is significantly higher in children compared with adults.

BACKGROUND: Some limited studies of coeliac disease have shown higher frequency of coeliac disease in infancy and adolescence than in adulthood. This finding has remained unnoticed and not adequately demonstrated. AIM: To assess whether there are age and gender differences in coeliac disease prevalence. METHODS: A total of 4230 subjects were included consecutively (1 to ≥80 years old) reproducing the reference population by age and gender. Sample size was calculated assuming a population-based coeliac disease prevalence of 1:250. After an interim analysis, the paediatric sample was expanded (2010 children) due to high prevalence in this group. Anti-transglutaminase and antiendomysial antibodies were determined and duodenal biopsy was performed if positive. Log-linear models were fitted to coeliac disease prevalence by age allowing calculation of percentage change of prevalence. Differences between groups were compared using Chi-squared test. RESULTS: Twenty-one subjects had coeliac disease (male/female 1:2.5). Coeliac disease prevalence in the total population was 1:204. Coeliac disease prevalence was higher in children (1:71) than in adults (1:357) (P = 0.00005). A significant decrease of prevalence in older generations was observed [change of prevalence by age of -5% (95% CI: -7.58 to -2.42%)]. In the paediatric expanded group (1-14 years), a decrease of coeliac disease prevalence was also observed [prevalence change: -17% (95% CI: -25.02 to -6.10)]. CONCLUSIONS: The prevalence of coeliac disease in childhood was five times higher than in adults. Whether this difference is due to environmental factors influencing infancy, or latency of coeliac disease in adulthood, remains to be demonstrated in prospective longitudinal studies.

Diagnostic value of duodenal antitissue transglutaminase antibodies in gluten-sensitive enteropathy.

BACKGROUND: In gluten-sensitive enteropathy, antitissue transglutaminase antibodies are synthesized in the duodenum. AIM: To compare the diagnostic yield of these autoantibodies in cultured duodenal biopsies, duodenal aspirate and serum. METHODS: Patients (n = 315, 135 female, 180 male; age: 37.3 +/- 1.1 years) referred for duodenal biopsies, were recruited and HLA-DQ2/DQ8 haplotyped. Histological measurements were made from duodenal biopsies and cultured duodenal biopsies were used for antitissue transglutaminase antibodies analysis by enzyme-linked immunosorbent assay. Duodenal aspirate was collected in a subgroup of 81 patients. Patients were classified, according to their histology, response to a gluten-free diet and DQ2/DQ8 status, as definite, likely or nongluten-sensitive enteropathy. RESULTS: Histology was normal in 59% of patients; 28% had lymphocytic enteritis, 1% had crypt hyperplasia and 13% showed atrophy. In Marsh III patients, there was complete agreement between duodenal and serological antitissue transglutaminase antibodies measurements. Marsh I patients showed a slight antitissue transglutaminase antibodies sensitivity improvement in cultured duodenal biopsy compared to serum in definite (22% vs. 19%) and likely gluten-sensitive enteropathy (20% vs. 14%) patients. Combined serum and cultured duodenal biopsy antitissue transglutaminase antibodies assessment increased serological sensitivity from 19% to 30% in Marsh I patients. CONCLUSION: Duodenal antitissue transglutaminase antibodies detection improves serological determination sensitivity in Marsh I patients, providing diagnostic value and therapeutic impact.

Spectrum of gluten-sensitive enteropathy in first-degree relatives of patients with coeliac disease: clinical relevance of lymphocytic enteritis.

BACKGROUND: Limited data on a short series of patients suggest that lymphocytic enteritis (classically considered as latent coeliac disease) may produce symptoms of malabsorption, although the true prevalence of this situation is unknown. Serological markers of coeliac disease are of little diagnostic value in identifying these patients. AIMS: To evaluate the usefulness of human leucocyte antigen-DQ2 genotyping followed by duodenal biopsy for the detection of gluten-sensitive enteropathy in first-degree relatives of patients with coeliac disease and to assess the clinical relevance of lymphocytic enteritis diagnosed with this screening strategy. PATIENTS AND METHODS: 221 first-degree relatives of 82 DQ2+ patients with coeliac disease were consecutively included. Duodenal biopsy (for histological examination and tissue transglutaminase antibody assay in culture supernatant) was carried out on all DQ2+ relatives. Clinical features, biochemical parameters and bone mineral density were recorded. RESULTS: 130 relatives (58.8%) were DQ2+, showing the following histological stages: 64 (49.2%) Marsh 0; 32 (24.6%) Marsh I; 1 (0.8%) Marsh II; 13 (10.0%) Marsh III; 15.4% refused the biopsy. 49 relatives showed gluten sensitive enteropathy, 46 with histological abnormalities and 3 with Marsh 0 but positive tissue transglutaminase antibody in culture supernatant. Only 17 of 221 relatives had positive serological markers. Differences in the diagnostic yield between the proposed strategy and serology were significant (22.2% v 7.2%, p<0.001). Relatives with Marsh I and Marsh II-III were more often symptomatic (56.3% and 53.8%, respectively) than relatives with normal mucosa (21.1%; p = 0.002). Marsh I relatives had more severe abdominal pain (p = 0.006), severe distension (p = 0.047) and anaemia (p = 0.038) than those with Marsh 0. The prevalence of abnormal bone mineral density was similar in relatives with Marsh I (37%) and Marsh III (44.4%). CONCLUSIONS: The high number of symptomatic patients with lymphocytic enteritis (Marsh I) supports the need for a strategy based on human leucocyte antigen-DQ2 genotyping followed by duodenal biopsy in relatives of patients with coeliac disease and modifies the current concept that villous atrophy is required to prescribe a gluten-free diet.