Coeliac disease

A 10-year-old girl presents to your clinic with a 6-month history of intermittent abdominal pain, fatigue, and poor growth. She had mild diarrhoea early on, but this settled. Her parents are worried because she has dropped from the 50th to the 10th percentile for height over the past year. She also has persistent iron deficiency anaemia despite oral iron supplements. She has been otherwise well.

Initial thoughts

With a constellation of abdominal symptoms, poor growth, and iron deficiency anaemia, your differential is broad. You think about inflammatory bowel disease, lactose intolerance, IBS, and functional abdominal pain — but there’s one condition that keeps creeping to the top – coeliac disease.

Let’s work through this case as a framework to understand how and when to recognise, investigate, and manage coeliac disease in children.

What is coeliac disease?

Coeliac disease is an immune-mediated enteropathy triggered by gluten in genetically susceptible individuals. Gluten exposure leads to intestinal inflammation and villous atrophy, impairing nutrient absorption. It’s lifelong and requires a strict gluten-free diet for effective management.

Coeliac disease often presents with subtle or extra-intestinal symptoms rather than acute illness, making the diagnosis challenging. Despite a prevalence of around 1%, many children remain undiagnosed or are diagnosed late.

Clinical features — what should you be looking for?

Your patient has poor growth and iron deficiency anaemia, two high-yield clues.

Key point: Coeliac disease often presents without diarrhoea. The absence of classical GI symptoms does not rule it out.

What else could this be?

But when multiple systems are involved — especially growth plus anaemia — coeliac disease must remain high on your list.

Are there associated conditions to consider?

As you review this child’s history, it’s worth considering whether she has any conditions that increase her risk of coeliac disease.

Coeliac disease is more frequently seen in children with other autoimmune and genetic conditions, particularly type 1 diabetes mellitus and autoimmune thyroid disease, as well as in those with Trisomy 21, Turner syndrome, Williams–Beuren syndrome, or selective IgA deficiency.

It is also important to remember that coeliac disease is significantly more common in first-degree relatives of affected individuals. For this reason, screening should be considered in these children even in the absence of symptoms.

How should you investigate?

Step 1 — Ensure adequate gluten intake

Before any testing is undertaken, it is essential to confirm that the child is consuming a normal gluten-containing diet. Reducing or excluding gluten prior to investigation can lead to a decline in antibody titres and false-negative results.

For most children, adequate gluten exposure is approximately 5–15 g per day. In practical terms, this can be achieved by providing at least two, and preferably three, gluten-containing meals daily, each contributing around 5 g of gluten.

By way of example, one medium slice of wheat bread, a serving of wheat-based breakfast cereal (such as Weetabix), two wheat biscuits (e.g., rusks or digestives), or approximately 4 tablespoons of cooked pasta each provide roughly 2–3 g of gluten.

Families should be counselled that maintaining gluten intake may temporarily worsen symptoms, but this is necessary to maximise diagnostic accuracy. Where gluten has already been excluded, testing should be deferred until adequate gluten exposure has been reintroduced.

Step 2 — Serological testing

This combination is recommended as the first-line screening test in children, offering the best balance of sensitivity and specificity.

If total IgA is low or undetectable, an IgG-based test should be used instead (such as DGP-IgG, EMA-IgG, or TGA-IgG).

Routine use of deamidated gliadin peptide antibodies or endomysial antibodies as initial screening tests is not recommended.

HLA-DQ2/DQ8 testing is not routinely required, but may be useful when the diagnosis remains uncertain. A negative result makes coeliac disease very unlikely, whereasa positive result only indicates genetic susceptibility and does not confirm the diagnosis.

For our young patient, total IgA is normal, and TGA-IgA returns markedly elevated at >10× the upper limit of normal.

Step 3 — Interpreting serology and confirming the diagnosis

According to the latest ESPGHAN diagnostic guidelines (2020), coeliac disease can now be diagnosed without duodenal biopsy in both symptomatic and asymptomatic children, provided specific criteria are met.

A no-biopsy diagnosis is appropriate when:

• TGA-IgA is ≥10× the upper limit of normal, using a validated assay
• Endomysial antibodies (EMA-IgA) are positive on a second blood sample
• The child is consuming a gluten-containing diet
• The diagnosis is made through shared decision-making with the family

Symptoms and HLA typing are not required to apply the no-biopsy pathway.

So, when is a biopsy required?

should undergo upper gastrointestinal endoscopy with duodenal biopsies to confirm the diagnosis.

All biopsies must be taken while the child remains on a gluten-containing diet.

In this child, endomysial antibodies were positive on a second blood sample, confirming the serological criteria for a no-biopsy diagnosis.

After discussion with the family about the benefits and limitations of a biopsy-free approach, and with the child continuing a gluten-containing diet, a diagnosis of coeliac disease was made without endoscopy under the guidance of a paediatric gastroenterologist in line with ESPGHAN guidance.

Management — how to help your patient

Gluten-free diet

The cornerstone of management is lifelong, strict adherence to a gluten-free diet. Even small amounts of gluten can perpetuate intestinal inflammation and delay recovery.

Dietitian support

Once the diagnosis is confirmed, early referral to an experienced paediatric coeliac dietitian is essential. Families often feel overwhelmed at diagnosis, and timely dietetic input helps translate medical advice into practical, sustainable dietary change.

Dietetic support focuses on:

• Education about gluten-free living
• Practical meal planning and label reading
• Ensuring adequate intake of calcium, iron, and other key micronutrients
• Supporting school and childcare arrangements
• Signposting families to reputable support organisations, such as Coeliac UK

Families should be encouraged to engage with peer and community support, which can significantly improve confidence and long-term adherence.

Follow-up and monitoring

Children with coeliac disease require structured, long-term follow-up, usually shared between paediatric gastroenterology and dietetic services.

The first routine follow-up is typically arranged 3–6 months after diagnosis, with families given clear access to earlier specialist advice if needed. Review should be brought forward if there are concerns about how the family is coping with the gluten-free diet, if symptoms persist, if growth remains suboptimal, or if repeat blood tests are required sooner.

Subsequent follow-up is generally six-monthly until coeliac serology (TGA-IgA) normalises, after which reviews can be spaced to 12–24 monthly intervals in clinically stable children.

Improvement in growth is a key marker of successful treatment in childhood coeliac disease. Following initiation of a strict gluten-free diet, weight gain typically improves first, often within the first few months, while linear (height) catch-up growth occurs more gradually. ESPGHAN guidance and longitudinal data suggest that most children demonstrate meaningful catch-up growth within the first 6–12 months, with height velocity continuing to improve over 12–24 months after diagnosis, particularly when treatment is started before puberty.

The extent and speed of catch-up growth depend on several factors, including age at diagnosis, severity and duration of disease prior to treatment, and adherence to the gluten-free diet. Children diagnosed earlier in life generally show more complete recovery of growth potential, whereas delayed diagnosis may result in incomplete catch-up, especially if puberty has already commenced. Failure to demonstrate expected improvement in growth despite good dietary adherence should prompt reassessment for ongoing gluten exposure, nutritional deficiencies, or alternative diagnoses.

Potential coeliac disease

Potential coeliac disease describes children who have positive coeliac serology but normal small-bowel histology while eating a gluten-containing diet. These children may have symptoms or may be identified through screening. ESPGHAN highlights that this diagnosis should be made cautiously, ensuring that factors such as inadequate gluten intake prior to biopsy, sampling error, or poor biopsy orientation have been excluded. When there is uncertainty, histological review by an experienced pathologist can be helpful.

There is no single management approach for potential coeliac disease. Current guidance does not support starting a gluten-free diet in all cases, particularly when children are asymptomatic. Instead, most should continue a normal diet with regular follow-up, including monitoring of symptoms, growth, nutritional status, bone health, and antibody levels. A trial of a gluten-free diet may be discussed when symptoms appear to be gluten-related, while repeat serology and, in selected cases, repeat biopsy may be considered if antibody titres increase or clinical features evolve.

Why this matters: Treating potential coeliac disease as confirmed coeliac disease can unnecessarily commit a child to lifelong dietary restriction, whereas careful surveillance allows progression to be identified without overtreatment.

Refractory (resistant) coeliac disease

Refractory coeliac disease refers to ongoing intestinal damage and malabsorptive symptoms despite adherence to a gluten-free diet. ESPGHAN emphasises that this condition is extremely uncommon in children and that persistent symptoms are far more often explained by other factors rather than true refractory disease.

Before considering this diagnosis, clinicians should reassess the original diagnosis, review dietary adherence with an expert dietitian, and investigate alternative causes of symptoms. These include inadvertent gluten exposure, secondary lactose intolerance, functional gastrointestinal disorders, inflammatory bowel disease, small-intestinal bacterial overgrowth, food allergy, or pancreatic insufficiency. Children with suspected refractory disease should be managed in specialist centres with appropriate expertise.

Why this matters: Incorrectly diagnosing refractory coeliac disease in childhood risks unnecessary investigations and anxiety, while diverting attention away from more common and treatable causes of ongoing symptoms.

References

Husby, S.; Koletzko, S.; Korponay-Szabó, I.R.; Mearin, M.L.; Phillips, A.; Shamir, R.; et al. European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for diagnosing coeliac disease. Journal of Pediatric Gastroenterology and Nutrition 2020, 70, 141–156.

Mearin, M.L.; Al-Toma, A.; Bercik, P.; et al. ESPGHAN guideline for the management and follow-up of children and adolescents with coeliac disease. Journal of Pediatric Gastroenterology and Nutrition 2022, 75, 369–386.

Murch, S.; Jenkins, H.; Auth, M.; Bremner, R.; Butt, A.; France, S.; et al. Joint BSPGHAN and Coeliac UK guidelines for the diagnosis and management of coeliac disease in children. Archives of Disease in Childhood 2013, 98, 806–811.