Overview
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 recommends to consider a diagnosis for people with Down syndrome (but not active screening). NICE recommends screening for Coeliac for all people with a diagnosis of autoimmune thyroid disease and Type 1 diabetes mellitus at the time of diagnosis. 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 the HLA typing is positive, serological testing will need to be undertaken. Approximately 3% of those with a positive DQ2 or DQ8 result will develop Coeliac disease during their life time. The cost for HLA typing varies considerably across the country.
If serological tests (Trans Glutamase Test, TTG) 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. This remains the gold standard for diagnosing Coeliac disease. 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 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 June 2021 Shiela Puri
DSMIG Guidance
Knowledge of normal growth in children with Down syndrome is important when considering possible Coeliac disease see Growth topic pages.
Presentations at DSMIG Meetings
June 2021 Presentation by Dr P Gillett at the annual RCPCH meeting
JUNE 2021 DSMIG Presentation BACKGROUND Part 1
JUNE 2021 DSMIG Presentation DS SPECIFIC Part 2
Additional Resources
European Society for Pediatric Gastroenterology, Hepatology, and Nutrition
Guidelines for the Diagnosis of Coeliac Disease
Coeliac disease:recognition and assessment
NICE Guidance CG86 2009
This information and letter proposing DQ testing was sent as part of our Lothian DS screening work which already had happened in a more ad hoc fashion. We saw the genetic test as a ‘standard of care’ but clearly this was an opt-in for families and was to prompt discussion and offer a different strategy for testing following the proposal by ESPGHAN and BSPGHAN in their respective guidelines. This letter was sent out to families on the departmental database and followed up with a phone call. Please feel free to use and amend the letter but do read the notes regarding the conversations we had in the follow up call.
Coeliac Down Syndrome Information Leaflet With Notes On Phone Discussion Options