Coeliac disease (Gluten-sensitive enteropathy)

Incidence:

Worldwide distribution

In the UK ~ 1 in 1500

In Ireland ~ 1 in 300

Rare in Black Africans

There is an increased risk to first-degree relatives, with 10-15% affected

Aetiology:

Gluten is a high molecular weight heterogeneous compound that can be fractionated to produce α, β and γ-gliadin peptides

α-gliadin is injurious to the small intestinal mucosa although there is some disagreement about the toxicity of the other compounds

Pathology:

The mucosa of the proximal small bowel is predominantly affected, the mucosal damage decreasing in severity towards the ileum as the gluten is digested into smaller, non-toxic, fragments

Is an absence of villi, making the mucosal surface flat

The crypts are elongated, with chronic inflammatory cells in the lamina propria

The lesion is described as subtotal villus atrophy

Clinical features:

Can present at any age:

In infancy it presents after weaning on to gluten-containing foods

Peak incidence in adults is in the 3^rd and 4^th decades

Females >> males

Tiredness

Malaise

Diarrhoea/steatorrhoea

Abdominal discomfort/pain

Weight loss

Intermittent mouth ulcers/angular stomatitis

Investigations:

Endomysial Antibodies (IgA):

Ix of first choice

These Abs have a high sensitivity and specificity for the dx of untreated Coeliac disease

Anti-reticulin antibodies:

Very sensitive but not particularly specific

Are seen in other GI conditions also (e.g. Crohn’s disease)

Jejunal biopsy:

The mucosal appearance of a jejunal biopsy specimen is diagnostic

Coeliac disease (Gluten-sensitive enteropathy)

Haematology:

50% of pts have a mild or moderate anaemia

Folate deficiency is almost always present – gives rise to a high MCV

Fe deficiency is common

B₁₂ deficiency is rare

Small bowel follow-through:

May show dilatation of the small bowel with a change in fold pattern

Folds become thicker and (in the severer forms) total effacement is seen

Treatment and mx:

A gluten-free diet usually produces a rapid clinical and morphological improvement.

Replacement haematinics are given initially to replace body stores

The usual cause for failure to respond to the diet is poor compliance

Complications:

Unresponsive ‘Coeliac disease’:

Often no cause for this is found but, occasionally, the following may be the cause:

Intestinal lymphoma

Ulcerative jejunitis

Carcinoma

Risk of malignancies:

T-cell lymphoma is increased in Coeliac disease

Carcinoma of the small bowel and oesophagus as well as extra-GI cancers are also seen