Celiac disease

Pre-referral guidelines for primary care providers

Celiac disease is an increasingly recognised condition characterised by gluten-dependent (rye, wheat, barley +/- oats) small bowel mucosal injury.


Celiac disease can present at any age, although peaks in paediatrics at 6 months to 2 years of age. The presentation is often non-specific, although making a diagnosis is important as removal of gluten from the diet will reduce the significant increase in lymphoma secondary to celiac disease. Common presenting symptoms and signs include:

  • failure to thrive
  • diarrhoea, vomiting & anorexia
  • foul, bulky stools
  • abdominal pain and distention
  • less common: hyperphagia, rectal prolapse, oedema, clubbing.

Note: Celiac disease is distinct from 'gluten sensitivity', whereby gastrointestinal symptoms (generally without failure to thrive) can be experienced without positive test results suggesting celiac disease.

Practice points

  • Peak presentation is 6 months to 2 years of age, although can be at any age
  • Diagnosis is important given avoidance of gluten minimises future risk of lymphoma
  • Screen with antibody markers (whilst on gluten containing diet); genetic screening only for exclusion in high-risk individuals
  • Small bowel biopsy is generally required for confirmation of diagnosis
  • Suggest family screening if diagnosis confirmed


Investigations - must be on gluten containing diet whilst being investigated (for at least 2 weeks, preferably 6 weeks).

  • Celiac screen in those with suggestive history, examination or positive family history
    • antibodies are a useful diagnostic indicator as well as for tracking disease activity (request can simply state "celiac screen")
      • tissue transglutaminase (TTG)
      • IgA endomysial antibody
      • IgA antigliadin antibody (IgG antigliadin can be tested if IgA deficiency)
    • a total IgA is also required
  • HLA-DQ2 and HLA-DQ8
    • 99% correlation with celiac disease, although many normal members of the population also positive for one/both, thus good negative predictive value but weak positive predictive value
    • main use is to screen those who are high risk but not necessarily symptomatic
  • Small bowel biopsy
    • gold standard for diagnosis
    • generally required when positive celiac screen above


  • Once diagnosis confirmed need to exclude all gluten from diet.
    • Can monitor response to treatment (and adherence) with repeat celiac screens.
  • Suggest family screening (+/- treatment) given elevated risk of lymphoma.

Referral pathways

  • Paediatrician
    • Referral to paediatric outpatient services is appropriate if:
      • positive screening antibodies (see above).
      • high risk individuals (e.g. strong family history) with negative antibody markers.
  • Gastroenterology
    • Referral for gastroenterology opinion and consideration of small bowel biopsy can generally be done after paediatric review.
  • Dietitian
    • Dietetic services are an important step to assist families in understanding a gluten free diet.