Childhood coeliac disease : clinical aspects of heredity, diagnosis and dietary therapy

Sammanfattning: Childhood coeliac disease (CD) is defined as a lifelong disorder, in which the small bowel mucosa is abnormal as a result of exposure to gluten in the diet. The mucosal damage improves on treatment with a gluten-free diet, but recurs within two years of reintroduction of gluten. If there is no mucosal relapse within two years of gluten challenge the condition is called transient gluten intolerance. We describe a case of CD, in whom small bowel biopsy performed yearly demonstrated that mucosal relapse took 14 years of gluten challenge. This is an exceptionally long time questioning the existence of the condition transient gluten intolerance.Small bowel biopsy is the golden standard in diagnosing CD but an uncomfortable investigation in a child. An effective sedation of the child is necessary. In a randomised study of intranasal versus intravenous midazolam as sedation of children undergoing small bowel biopsy we showed that both administration routes are effective and safe. Intranasal midazolam produced nasal discomfort. Thus, the intravenous route of administration is to be preferred.In a previous study at our clinic 20-25 years ago all first-degree relatives (n=100) of 32 index patients with CD were investigated with small bowel biopsy. Two cases of CD were found. In the present reinvestigation of the relatives (n=120) using serological screening, 8 new cases of CD were found. The overall prevalence of CD in the first-degree relatives is 8.3%. Six of the new cases were children of the index patients. The remaining 2 newly diagnosed cases had had some enteropathy, not classified as CD, in the previous study. This is the first study of first-degree relatives of coeliacs followed for as long as 20-25 years. The study shows that there is a strong genetic component in the aetiopathogenesis of CD.The compliance to gluten-free diet, among 29 adult coeliacs, who had been diagnosed in childhood (one group before and one group after 4 years of age) was assessed by dietmy questionnaire and serological markers. The compliance was 80% in the patients diagnosed before 4 years and 36% in those diagnosed later in childhood. This significant difference indicates that a diagnosis in early childhood makes it easier for a coeliac patient to keep to a strict gluten-free diet. This is a clinically important observation.In a double-blind randomised multi-centre study of oats in the gluten-free diet during a study period of one year, children with CD were carefully monitored using small bowel biopsy and serological markers. The results indicate that oats are tolerated by coeliac children. This is important, since additional oats improve the palatability and fibre content of the fairly low-fibre standard glutenfree diet. This makes it easier for a patient with CD to adhere to the gluten-free diet, which is very important in order to minimise the risk for potential complications.