Coeliac Disease

Question 1

Definition

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

Aetiology/risk factors

Answer 2

• Due to sensitivity to the GLIADIN component of gluten
• Exposure to gliadin triggers an 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 on PE

Answer 5

• Signs of anaemia: pallor
• Signs of malnutrition:
o Short stature
o Abdominal distension
o Wasted buttocks in children
o 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:
o FBC (low Hb, iron and folate)
o U&E
o Albumin
o Calcium
o Phosphate
• Serology:
o IgG anti-gliadin antibodies, IgA and IgG anti-endomysial tranglutaminase antibodies can be diagnostic
o 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)
o Biopsy will show villous atrophy and crypt hyperplasia in the duodenum
o 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

Complications

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