Coeliac disease is an immune-mediated condition characterized by chronic inflammation of the small bowel with villous atrophy driven by gluten ingestion in genetically predisposed individuals. It... Show moreCoeliac disease is an immune-mediated condition characterized by chronic inflammation of the small bowel with villous atrophy driven by gluten ingestion in genetically predisposed individuals. It occurs frequently in both children and adults, affecting 1-4% of the population. The disease is associated with both gastrointestinal and extra-intestinal symptoms related to malabsorption and/or immune activation, and autoantibodies to tissue transglutaminase. Removal of gluten from the diet results in resolution of symptoms and enteropathy in the majority of patients. A good diagnostic work-up is important to avoid unnecessary restrictive diets in children. In this review on pediatric coeliac disease, we address epidemiology including predisposing environmental factors and possible preventive strategies, as well as the clinical presentation, diagnosis and follow-up. Show less
In coeliac disease effective long-term management and screening programs are lacking for children as well as for adults. In this thesis we tried to contribute to this close this gap. We showed that... Show moreIn coeliac disease effective long-term management and screening programs are lacking for children as well as for adults. In this thesis we tried to contribute to this close this gap. We showed that nutritional deficiencies present at diagnosis recover within 1 year of gluten-free diet and demonstrated that standard blood investigations besides coeliac specific serology are not necessary after 1 year of follow-up. Furthermore, the short dietary questionnaire developed by Biagi does not provide more information on diet adherence than coeliac specific antibodies, whereas a standardized dietary interview does. In the domain of screening, we demonstrated that parents from coeliac families support HLA-typing in their children in order to assess risk for the disease. Detailed information should be offered to them in order to prevent misinterpretation of the results, Antibody-testing should be offered to all HLA-DQ2 and/or DQ8 positive pediatric first degree relatives, with regular intervals until the age of 10. With regard to screening in asymptomatic diabetic children, normal duodenal mucosa is present in 12% of the children when biopsied in case of a TG2A titer of > 3xULN. Follow-up serology seems safe and appropriate in such cases. Show less
Coeliac disease (CD) is an immune-mediated systemic disorder elicited by gluten in genetically susceptible individuals. The aim of this thesis was to investigate the influence of infant feeding on... Show moreCoeliac disease (CD) is an immune-mediated systemic disorder elicited by gluten in genetically susceptible individuals. The aim of this thesis was to investigate the influence of infant feeding on prevention and development of childhood CD (part 1) and to explore new strategies for improvement of care for CD children and young adults (part 2). In part 1, the European multi-centre randomized double-blind placebo-controlled dietary intervention-study in high-risk children (www.preventcd.com) is presented. Based on retrospective studies suggesting a ‘window of opportunity’ for primary prevention of CD, parents were advised to introduce gluten between 4–6 months of age. Our results show that this did not reduce the risk of CD by 3 years of age and contributed to a new European guideline stating that gluten may be introduced between age 4-12 months. Part 2 shows that physicians overestimate the CD specific health-related quality-of-life (HRQOL) of CD patients, supporting implementation of self-reported CD-specific HRQOL measurements during follow-up. Compared to traditional hospital visits for treated CD, E-health was cost-saving, satisfactory, and significantly improved the CD-specific HRQOL. As E-health requires a point-of-care test suitable for follow-up of treated CD, three different tests were compared with conventional ELISA and one was found to be suitable. Show less
Coeliac disease is an autoimmune disorder of the small intestine which occurs in genetically predisposed individuals. CD is caused by an inflammatory T-cell response to the protein gluten and the... Show moreCoeliac disease is an autoimmune disorder of the small intestine which occurs in genetically predisposed individuals. CD is caused by an inflammatory T-cell response to the protein gluten and the treatment is a lifelong gluten-free diet. CD may be identified by non-invasive tests which measure the specific coeliac antibodies and HLA-DQ2/DQ8 genotypes, and by an invasive test the small bowel biopsies. The aim of this thesis is to evaluate different methods used in the identification (Chapter 2 shows improvements of serological mass screening programs for CD and chapter 3 adds knowledge to the relation between geno-phenotype of CD), diagnosis (Chapter 4 illustrates a diagnostic scoremodel that could prevent 58% of the usually performed small bowel biopsies) and follow-up of childhood CD (Chapter 5 investigates the decline and normalization of specific coeliac antibodies when being on a glutenfree diet). Furthermore, new strategies for the prevention of the disease are explored (in chapter 7 the rationale behind the primary prevention of CD is outlined, which is based on adjusting factors that contribute to the disorder might improve tolerance to the food allergens gluten). And chapter 8 describes a European multicenter study PreventCD that investigates whether it is possible to induce tolerance to gluten by introducing small quantities of gluten to infants, preferably whilst they are breastfed. Show less
