Coeliac Disease Screening

Coeliac disease symptoms, TTG and IgA screening, HLA typing, and specialist referral guidance

Children with Down Syndrome are at higher risk of developing coeliac disease (CD), which, if untreated, can lead to serious complications, including:

Malabsorption: Poor nutrient absorption causes iron deficiency anaemia, vitamin B12 or folate deficiency anaemia, and osteoporosis.
Malnutrition: Severe nutrient deficiency causing fatigue, dizziness, and, in children, stunted growth. Treatment involves a high-calorie diet and supplements.
Lactose Intolerance: Temporary lactose intolerance from gut damage, leading to bloating and discomfort, usually resolving with a gluten-free diet.
Cancer (Rare): A slight increase in the risk of small bowel cancer, small bowel lymphoma, and Hodgkin lymphoma, which normalises on a gluten-free diet.

Coeliac Disease and Type 1 Diabetes: CD is more common in individuals with type 1 diabetes due to their shared autoimmune origin. Silent CD, without symptoms, is diagnosed only through routine screening. Screening for diabetes is also essential if symptoms such as increased thirst, frequent urination, or unexplained weight loss occur. There is no link between CD and type 2 diabetes.
Coeliac Disease and CK/Transaminase Levels: Elevated creatine phosphokinase (CK) levels, found in 40% of children with CD, can indicate CD, especially with gastrointestinal symptoms. CK levels typically return to normal with a gluten-free diet. Elevated transaminase levels (HT) are also a recognised marker of CD.

The UK recommends a low threshold for testing children with Down Syndrome for CD, using:

Blood test for Coeliac antibodies (TTG).
Total immunoglobulin A (IgA): To detect IgA deficiency, which may cause false negatives.

Symptomatic children: Immediate TTG testing (e.g., loose stools, constipation, abdominal discomfort).
Asymptomatic children: Routine TTG testing every 3 years.
HLA Testing: Offered locally to identify genetic susceptibility to CD without the need for gluten intake. Complete the HLA test using this form.

HLA Positive (DQ2 or DQ8): Indicates genetic potential for CD, requiring periodic screening.
HLA Negative: Virtually excludes CD, removing the need for future routine TTG testing.

TTG/EMA accuracy depends on regular gluten intake before testing.
Diagnosis without a biopsy is possible if TTG is ≥10 times the normal limit and EMA is positive on a second sample.

Refer to a paediatric gastroenterologist.
Do not start a gluten-free diet before a specialist consultation to ensure diagnostic accuracy.