Coeliac disease

An immune mediated gluten intolerance with activated T-calls causing inflammatory response; resulting in mucosal villous atrophy in the small bowel. Gluten is a protein found in wheat, rye and barley.

People with Downs syndrome, type-1 diabetes or autoimmune thyroiditis are at higher risk to develop coeliac disease.

Presentation

Many cases are asymptomatic and diagnosis is often delayed due to the range of manifestations.

Young child

– Poor appetite, lethargy

– Loss of muscle bulk, hypotonia

– Abdominal distention

– Pale bulky stools

– Paller due to iron-deficiency anaemia or folate deficiancy

– Failure to thrive in a young child

– Short stature in older child

Adults

– Weakness, fatigue

– Anorexia, weight loss

– Steatorrhea (foul-smelling, pale, bulky, and greasy stools)

– Apthous ulcers, glossitis

– Pruritic papulovesicular rash called Dermatitis herpetiformisover elbows, knees or scalp

– Nutritional deficiencies for Vit D, calcium, Iron, Vit B12, Folate etc

– May have reduced fertility; sometimes amenorrhoea in women

Screening:

A gluten-containing diet should be continued for tests to be meaningful during the diagnostic process.

If avoiding gluten, it must be introduced for at least 6 to 8 weeks before testing is done to confirm. Infants cannot be tested unless already on gluten-containing diet.

NICE (UK) recommends that screening should be offered to people with:

– persistent unexplained abdominal or gastrointestinal symptoms.

– faltering growth or unexpected weight loss.

– prolonged fatigue.

– severe or persistent mouth ulcers.

– unexplained iron, vitamin B12 or folate deficiency.

– type 1 diabetes (at the time of diagnosis).

– autoimmune thyroid disease (at the time of diagnosis).

– Irritable bowel syndrome (IBS) – in adults.

– first-degree relatives of people with coeliac disease.

NICE also recommends screening in people with:

– Metabolic bone disorder (osteomalacia)

– Unexplained neurological symptoms (like peripheral neuropathy or ataxia)

– Unexplained subfertility or recurrent miscarriage

– Persistently raised liver enzymes with unknown cause

– Dental enamel defects

– Down’s syndrome, Turner syndrome

Investigations

Auto-antibodies against tissue transglutaminase (tTGA),including endomysial antibodies (EMAs)can be measured in blood. tTGA or EMAs normalises after gluten exclusion.

IgA tissue transglutaminase (tTGA) is the initial screening test.

    – If tTGA is weakly positive, check IgA EMAs

    – If IgA is deficient, consider using IgG tTG or IgG EMA

HLA-DQ2 or HLA-DQ8 testingshould only be used in specialist settings as 95% of celiac patients have the HLA-DQ2 or HLA-DQ8 haplotype, but these are not specific for celiac disease.

Small-bowel biopsyfrom the second part of duodenum is required for confirmation, and shows villous atrophy, increased intraepithelial cells, and crypt hyperplasia. Such changes however are not specific to coeliac disease.

If serological tests and biopsy are negative, celiac disease is extremely unlikely.

Other tests may reveal anaemia (iron or folate defi), low Na, K, Ca, albumin or elevated Alk Phos or PT.

Complications

– Nutrient deficiencies – eg, vitamin D and iron.

– Osteoporosis

– Poor weight gain, delayed puberty & short stature in children

– Low mood, anxiety

– Fertility issues

– Risk of GI cancers- Intestinal lymphoma, oesophagus, oropharynx etc

Management

– Education & information

– Signposting to resoirces and support groups

– Lifelong strict gluten-free diet (no wheat, barley, rye, or any food containing them)

– Dietitian input is required to learn food labels, gluten substitutes, recipes, eating out etc and may need nutritional supplements

– Regular health monitoring in specialist clinic