Coeliac disease occurs more commonly in people with Down syndrome with various studies reporting prevalence rates of 1-19% depending on age of sample and country of origin. Presentation is similar to that in the general population i.e. recurrent abdominal pain, reflux and vomiting,variable bowl habit (constipation or diarrhoea),flatulence,faltering growth and irritability.
Clinical diagnosis may be difficult or delayed as these symptoms are common in Down syndrome and may be overlooked ( diagnostic overshadowing) therefore it is important to have a low threshold of clinical suspicion and a heightened awareness of symptoms.
Whether to screen for coeliac disease or not is still an area of controversy, though NICE guidance and the European Society for paediatric gastroenterology, hepatology and nutrition does recommend screening is considered for at risk groups including Down syndrome. However without screening it is important that there is prompt assessment of those with possible symptoms . Currently initial assessment is usually by testing for coeliac disease specific antibodies- which if absent make the diagnosis less likely . HLA typing is increasingly used in assessment as Coeliac disease with HLA types DQ2 and DQ8 and diagnosis is unlikely if neither present.
If serological tests are negative then Coeliac disease is unlikely , but if positive or there is a high degree of clinical suspicion, the diagnosis is often confirmed by a small intestinal biopsy. In some circumstances with severe symptoms, and high antibody titres , diagnosis may be confirmed by a gastroenterologist without the need for biopsy .
Management of Coeliac disease in people with Down syndrome is as for the general population â€“ with exclusion of gluten from the diet , treating any nutritional deficiencies, and monitoring for associated diabetes or thyroid disorder.There is a suggestion that long term consequences of coeliac disease such as bowel malignancy may be less likely in those with Down syndrome .
Updated January 2016
Knowledge of normal growth in children with Down syndrome is important when considering possible Coeliac disease see Growth topic pages.
Guidelines for the Diagnosis of Coeliac Disease
NICE Guidance CG86 2009