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.
- 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
- 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
- antibodies are a useful diagnostic indicator as well as for tracking disease activity (request can simply state "celiac screen")
- 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
Management
- 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.
- 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.
- Referral to paediatric outpatient services is appropriate if:
- 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.