Coeliac disease is an autoimmune disease which results in malabsorption. It is caused by gluten breakdown products that damage the mucosa of the proximal small intestine. It is most commonly associated with infants 'failure to thrive'.

Introduction

Coeliac disease affects 1 in 250 to 1 in 4000, and is most common to present in early childhood or in the elderly. Although it is not inherited, there is a familial predisposition with 10% of patients with coeliac disease having an affected first degree relative.

It is associated with the genetic defect HLA DQ2, thus there are associated autoimmune disorders such as thyroid problems and pernicious anaemia. There is also an increased risk of small bowel cancer (increased risk of 20 times) and lymphoma.

In coeliac disease the body forms two antibodies in response to the breakdown of gluten called anti-gliadin and anti-endomysial antibodies. They interfere with the breakdown of gluten and cause villous atrophy on the mucosa of the small intestine and hypertrophy of the crypts. Therefore without to villi to increase the surface area, there is less absorption. The worst affected area is the proximal small intestine as this is where more gluten is broken down.

Histology of the mucosa of the small bowel

Presentation

Typical presentation of coeliac disease

Investigations

Example of what is expected on a growth chart of a child presenting with coeliac disease

Take a full history and establish the dietary intake to see if the child is getting enough calories. Remember coeliac disease can only present once gluten has been introduced into the diet.

Measure the growth and weight and plot on a growth chart. The diagram shows the difference between a normal growth chart and that of a child with coeliac disease. The weight falls off the predicted line and begins to fall at the time when gluten is introduced into the diet i.e. at six months. The length also dips below the predicted line.

Stool sample to assess fat content and culture for any possible infection.

The most appropriate screening test is a blood test for coeliac antibodies; IgA antigliadin or anti-endomysial antibodies. This is suggestive of coeliac disease, however the diagnosis is only confirmed by a jejunal biopsy to see atrophy of the villi and thus flat mucosa.

Diagnosis is also confirmed by alleviation of the symptoms once gluten is no longer in the diet.

Management

Coeliac disease is treated by a strict gluten-free diet, including all foods that contain wheat, barley and rye. If the child adheres to this diet the villi will recover which will result in alleviation of symptoms including improvement in mood. Growth will subsequently catch up. 

It is a difficult diet to adapt to at first so refer the child and family to a dietician for support and advice on gluten-free alternatives and to ensure the child gets a balanced diet.

It is also important to adhere to the gluten-free diet as the long-term complications of untreated coeliac disease is small bowel lymphoma.

Differential Diagnosis 

  1. Cystic fibrosis - malabsorption with steatorrhoea and recurrrent respiratory infections. Diagnosed by the sweat test.
  2. Gluten intolerance - can be transient in younger years, so can try re-introducing gluten at a later date.
  3. Infection - Giardia lamblia
  4. Environment or pyschosocial - neglect, eating difficulties
  5. GORD - pain on eating, apnoea, vomiting
  6. Endocrine dysfunction - growth hormone deficiency (rare)
  7. Severe constipation - distended abdomen and overflow diarrhoea

Useful tips

OSCEs

  • Know a website: www.coeliac.org.uk
  • Free pescriptions for gluten-free foods available from GP
  • Know how to plot a growth chart and interpret it
  • Be able to explain in lay-man terms: www.patient.co.uk/health/coeliac-disease.htm

 

References

Bhakthavalsala S, Newson T, Horton-Szar D. Crash Course: Paediatrics. 3rd Edition. Mosby (2008)

Newell S, Darling J. Lecture Notes: Paediatrics. 8th Edition. Blackwell Publishing (2008)

Lissauer T, Clayden G. Illustrated Textbook of Paediatrics. 3rd Edition. Mosby (2007)

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