What is Coeliac disease ? 

Coeliac disease is a lifelong autoimmune condition that affects the lining of the small intestine, in those who are genetically susceptible to developing it, when they eat food products that contain gluten. 

Gluten is a seed storage protein found in various grains such as wheat, barley and rye.  Proteins are built up from amino acid building blocks.  Gluten is rich in Proline and Glutamine amino acids, and this makes it harder to digest in the gut.

Autoimmune conditions are chronic conditions in which the body's immune system fails to recognise one's own organs properly as one of its own.  Rather it 'sees' them as 'foreign' or non-self, and needing to be attacked. This then leads to that organ becoming damaged, inflammed and unable to operate well.  This can happen to various organs including the pancreas (Diabetes), the thyroid gland (over or under active thyroid activity) and the small intestine (Coeliac disease).

How common is Coeliac disease ?

This is a very common condition thought to affect 1 in 100 people. It can often be associated with other autoimmune conditions including Type 1 Diabetes and thyroid problems. It is more common in families where someone is already affected.

What causes Coeliac disease?

In those people who have the right combination of genes, along with eating gluten, and some as yet to be fully determined other factors, the guts immune system can over react to the presence of gluten within the bowel. 

The gluten in the gut is chemically modified by an enzyme, tissue transglutaminase.  This makes it more easily picked up by cells involved in the immune system. The peptide strands of modified gluten bind tightly to specific types of HLA receptors (known as DQ2 and DQ8) that sit on the cell surface of these detector cells. They are specifically associated with coeliac disease.  These cells then present this combined peptide receptor complex to specialised immune system T cells.

This sets off a chain of events that releases chemicals in an inflammatory cascade that culminates in damage to the lining (or mucosa) of the small intestine, a specialised area of the gut where absorption occurs.

This causes it to malfunction and leads to issues such as malabsorption - a difficulty to digest and absorb nutrients from food.

What symptoms might a child have ?

Often in children and people with Coeliac disease, symptoms are related to malabsorption.  These may include abdominal pain, bloating, loose or diarrhoea like stools.  There may be weight loss, or failure to grow in height. Sometimes, it can affect development through puberty. 

When blood tests have been performed for other reasons, such as investigations into excessive tiredness or lack of energy, your child may be found to be anaemic due to a lack of Iron.  Inadequate iron in the diet is a common cause of iron deficiency but in some situations, particularly when iron replacement doesn't work to improve the anaemia, Coeliac disease may be a contributory factor.

However, despite all these possible symptoms, a lot of people with Coeliac disease show no symptoms at all. 

How to diagnose coeliac disease in children?

The approach to diagnosing coeliac disease in children is an area where significant change has taken place recently. It is somewhat different to that in adults.

Now, in certain circumstances, there is more of an option to rely on blood tests alone, rather than also needing to obtain biopsy specimens from the gut lining. A so-called biopsy avoidance approach. This will usually involve a couple of blood tests. 

However, sometimes biopsies from the small bowel are needed. These are obtained during an upper GI endoscopy or OGD.

I use blood tests in the first instance, and the levels that return help determine the next best step.

For more on this please see my recent blog post all about the diagnostic pathway and how it has changed significantly over the years.

It is really important that your child does not exclude gluten from the diet until the diagnosis has been confirmed.

It is highly recommended that a specialist in paediatric gastroenterology is involved in the diagnostic process.

How to treat coeliac disease?

A lifelong gluten free diet is the current management for someone who has been diagnosed with Coeliac disease.

A specialist paediatric dietician is essential.  They can go through the gluten free diet with you in detail and offer tips to help along the way. 

Accessing support, and useful resources such as those provided by Coeliac UK are very helpful. They can be found on the useful resources page . 

Regular follow up with a paediatrician knowledgeable in the care of children and young people with Coeliac disease is important. 

Other members of the family should also be tested as it is more prevalent in immediate relatives of someone already affected by it.