Coeliac Disease

Question 1

Define

Answer 1

An inflammatory disease caused by intolerance to GLUTEN, causing chronic intestinal malabsorption.

It leads to subtotal villous atrophy and crypt hyperplasia

Question 2

Causes

Answer 2

Due to sensitivity to the GLIADIN component of gluten

Exposure to gliadin triggers and immunological reaction in the small intestine leading to mucosal damage and loss of villi

10% risk of first-degree relatives being affected

Clear genetic susceptibility associated with HLA-B8, HLA-DR3 and HLA-DQW2 haplotypes

Question 3

Epidemiology

Answer 3

UK: 1/2000

West Ireland: 1/300

Rare in East-Asia

Question 4

Symptoms

Answer 4

• May be asymptomatic
• Abdominal discomfort, pain and distention
• Steatorrhoea (pale bulky stool, with offensive smell and difficult to flush away)
• Diarrhoea
• Tiredness, malaise, weight loss (despite normal diet)
• Failure to ‘thrive’ in children
• Amenorrhoea in young adults

Question 5

Signs

Answer 5

Signs of anaemia: pallor

Signs of malnutrition:

• Short stature
• Abdominal distension
• Wasted buttocks in children
• Triceps skinfold thickness gives indication of fat stores

Signs of vitamin/mineral deficiencies: osteomalacia, easy bruising

Intense, itchy blisters on elbows, knees or buttocks (dermatitis herpetiformis)

Question 6

Investigations

Answer 6

Blood:

• FBC (low Hb, iron and folate)
• U&E
• Albumin
• Calcium
• Phosphate

Serology:

• IgG anti-gliadin antibodies, IgA and IgG anti-endomysial tranglutaminase antibodies can be diagnostic
• NOTE: IgA deficiency is quite COMMON (1/50 with coeliac) so Ig levels should be measured to avoid false negatives

Stool: culture to exclude infection, faecal fat tests for steatorrhoea

D-xylose test: reduced urinary excretion after oral xylose indicates small bowel malabsorption

Endoscopy: allows direct visualisation of villous atrophy in the small intestine (mucosa appears flat and smooth)

• Biopsy will show villous atrophy and crypt hyperplasia in the duodenum
• The epithelium adopts a cuboidal appearance - there is an inflammatory infiltrate of lymphocytes and plasma cells in the lamina propria

Question 7

Management

Answer 7

Advice: avoid gluten (wheat, rye and barley products)

Medical: vitamin and mineral supplements. Oral corticosteroids if disease does not subside with avoidance of gluten

Question 8

Complcations

Answer 8

Iron, folate and B12 deficiency

Osteomalacia

Ulcerative jejunoileitis

GI lymphoma (particularly T cell)

Bacterial overgrowth

Cerebellar ataxia (rarely)

Question 9

Prognosis

Answer 9

FULL RECOVERY in most patients who strictly adhere to a gluten-free diet

Symptoms usually resolve within weeks though histological changes may take longer

Gluten-free diet must be followed for life