Eight out of 10 coeliac cases go undiagnosed

Dr Kim Faulkner-Hogg

writer

Dr Kim Faulkner-Hogg

Lead Dietitian at Coeliac Australia

Dr Kim Faulkner-Hogg

Coeliac disease affects approximately 1 in 70 Australians, yet up to 80% of cases remain undiagnosed.

GPs play a critical role in changing this.

Clinical presentations are changing

Coeliac disease is a chronic autoimmune condition triggered by dietary gluten in genetically susceptible individuals.

While classic gastrointestinal symptoms such as chronic diarrhoea, bloating, weight loss and abdominal discomfort remain common, research suggests over half of patients with coeliac disease now present with non-classical or extra-intestinal features.

These include:

  • Iron deficiency (with or without anaemia)
  • Fatigue
  • Headaches or migraines
  • Poor concentration, cognitive impairment, mood changes
  • Osteopenia or osteoporosis
  • Recurrent aphthous ulcers
  • Elevated liver enzymes
  • Infertility or recurrent miscarriage
  • Anxiety, peripheral neuropathy or ataxia
  • Dermatitis herpetiformis, psoriasis, alopecia areata

Children may also present with faltering growth, delayed puberty, abdominal pain or behavioural changes rather than overt malabsorption.

Practice tip: Consider coeliac disease in the differential diagnosis and potential underlying cause of presenting signs and symptoms. Coeliac disease is more than just a gut issue — it can affect bone health, fertility, neurological function, cause fatigue and increase gastrointestinal cancer risk.

Given this broad spectrum, testing should be considered in patients with these presentations, as well as those with persistent gastrointestinal symptoms, associated autoimmune conditions (particularly type 1 diabetes or autoimmune thyroid disease), Down syndrome, or a first-degree relative with coeliac disease.

Being aware of these presentations can improve diagnosis and long-term medical outcomes for people with coeliac disease.

Screening

Encourage patients to complete the medically-reviewed Self-Assessment quiz (developed from the coeliac disease NICE guidelines).

Coeliac Awareness Week is 13-20th March. You can display the poster and encourage patients to assess their risk.

Diagnosis

Accurate diagnosis depends on patients regularly consuming sufficient gluten/wheat foods (e.g. bread, Weetabix, pasta, baked goods etc), before testing.

Testing should include Coeliac-specific antibodies:-

  • TTG-IgA
  • DGP-IgG
  • and total IgA

If positive, referral to a gastroenterologist for confirmatory small bowel biopsy remains standard practice in adults. Ensure wheat foods remain in the diet until all tests are completed.

Some children can exclude the biopsy if TTG IgA is >10 times the upper limit of normal (for that test kit) AND EMA (or DGP-IgG if EMA is not available) is positive in a second blood draw. If bloods are not that high, they require a referral to a gastroenterologist for small bowel biopsy.

HLA-DQ2 and HLA-DQ8 genotyping may help exclude coeliac, particularly if patients have already commenced a gluten-free diet and do not wish to gluten-load before testing. Positive genetics alone, do not diagnose coeliac disease. However, the absence of these genes can exclude it.

If gluten has been out of the diet a month or more, then a gluten challenge of 2-4 slices of wheat bread or 2-4 Weetabix or ½-1 cup pasta each day for 4-6 weeks, should be done before the above tests are instigated.

Note that beer and chocolate with ‘may contain wheat’ statements do not contain sufficient gluten. Oats are tolerated by about 90% of those with coeliac disease, so cannot be used to gluten load.

Practice tip: GPs can help reduce diagnostic delay and long-term complications through earlier recognition, by ordering coeliac-specific antibodies, BEFORE gluten/wheat products are removed from the diet and reminding patients to keep wheat foods in until biopsy confirmation is completed.

Management and long-term care

A strict, lifelong gluten-free diet is the only current treatment. Referral to an experienced specialised dietitian is essential at diagnosis and for regular follow up, to support nutritional adequacy, inform how to read food labels, manage social events and quash disinformation.

GP follow up should occur 6 monthly until stable and then every 1-2 years after this.

Consider:

  • Baseline nutritional assessment (iron, B12, folate, vitamin D, zinc)
  • Bone density testing in adults at diagnosis or where risk factors exist
  • Monitoring symptom resolution and coeliac-specific serology over time
  • Screening liver enzymes
  • Screening for associated autoimmune conditions (eg. Thyroiditis, T1D)
  • Vaccination review, including pneumococcal vaccination
  • Screen immediate family members as they have a 1 in 10 chance of also having coeliac disease
  • Consider mental wellbeing: the input of a psychologist/counsellor may help adjustment to the long term social and living implications that the gluten free lifestyle imposes.

Gastroenterologists often repeat the biopsy 12-24 months after the initial to assess villi recovery. Oat challenges (using suitable gluten cross-contact reduced oats only) might be required.

Even with treatment, some patients experience persistent symptoms due to inadvertent gluten exposure, concurrent IBS, lactose or FODMAP intolerance or refractory coeliac disease, requiring ongoing review.

Refer to specialist dietitians for gluten-free diet support, credible cross-contamination prevention information and long-term nutrients at risk and nutrition information.

Encourage patients to join Coeliac Australia to improve wellbeing and increase support. They’ll get access to evidence-based dietary guidance, label reading help, food product updates, education/webinar resources, advocacy and community support. This can significantly improve dietary adherence and quality of life.

Practice tip: Now is an ideal time for practices to review testing protocols, refresh clinical knowledge and proactively identify patients who may benefit from assessment or ongoing support.

What’s coming

A major, multi-year early childhood screening program for coeliac disease and type 1 diabetes will commence during late 2026 in selected schools across NSW and SA.

The initiative, funded by patient advocacy and medical research organisations Coeliac Australia and Breakthrough T1D, will screen children in Years 1 and 4, with the aim of screening more than 150,000 children nationally over the next 3–5 years.

Children with positive antibodies will be referred to their GPs and relevant specialists to confirm diagnosis and, in the case of coeliac disease, commence a gluten-free diet.

Encouraging your patients to connect with reputable, experienced dietitians and Australia’s leading support organisation, Coeliac Australia, is an important component of management.

Resources:

Health professionals – Coeliac Australia

Self-Assessment quiz

Coeliac Awareness week posters

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Dr Kim Faulkner-Hogg

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Dr Kim Faulkner-Hogg

Lead Dietitian at Coeliac Australia

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