Coeliac disease

Question 1

Define coeliac disease

Answer 1

Inflammatory disease caused by intolerance to GLUTEN, causing chronic intestinal malabsorption

Leads to subtotal villous atrophy & crypt hyperplasia

Question 2

Aetiology of coeliac disease

4

Answer 2

Due to sensitivity to GLIADIN component of gluten
Exposure to gliadin triggers immunological reaction in small intestine —> mucosal damage & loss of villi
10% risk of 1st degree relative being affected
Clear genetic susceptibility associated w/ HLA-B8, HLA-DR3, HLA-DQW2 haplotypes

Question 3

Epidemiology of coeliac disease

UK, rare

Answer 3

1/2000 in UK

Rare in East Asia

Question 4

Presenting symptoms of coeliac disease

general +6

Answer 4

May be asymptomatic

Abdo discomfort, pain & distention
Steatorrhoea - pale bulky stool, offensive smell & difficult to flush
Diarrhoea
Tiredness, malaise, weight loss (despite normal diet)
Failure to thrive in children
Amenorrhoea in young adults

Question 5

Signs of coeliac disease on physical examination

1, 4, 2, 1

Answer 5

Signs of anaemia
- pallor

Signs of malnutrition

• short stature
• abdo distention
• wasted buttocks in children
• triceps skin fold thickness give indication of fat stores

Signs of vitamin/mineral deficiencies

• osteomalacia
• easy bruising

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

Question 6

Investigations for coeliac disease

5

Answer 6

Bloods
Serology
Stool
D-xylose test
Endoscopy

Question 7

Investigations for coeliac disease - bloods

5

Answer 7

FBC - low Hb, iron & folate
U&Es
Albumin
Calcium
Phosphate

Question 8

Investigations for coeliac disease - serology

2

Answer 8

IgG anti-gliadin antibodies, IgA & IgG anti-endomysial transglutaminase can be diagnostic
IgA deficiency quite COMMON (1/50 with coeliac) so Ig levels should be measured to avoid false negatives

Question 9

Investigations for coeliac disease - stool

Answer 9

Culture to exclude infection, faecal fat tests for steatorrhoea

Question 10

Investigations for coeliac disease - d-xylose test

Answer 10

Reduced urinary excretion after oral xylose indicates small bowel malabsorption

Question 11

Investigations for coeliac disease - endoscopy

3

Answer 11

Allows direct visualisation of villous atrophy in small intestine (mucosa appears flat & smooth)
Biopsy shows villous atrophy & crypt hyperplasia in duodenum
Epithelium has cuboidal appearance - inflammatory infiltrate of lymphocytes in lamina propria

Question 12

Management of coeliac disease

advice + 2 medical

Answer 12

ADVICE -
Avoid gluten (wheat, rye, barley products)

MEDICAL -
Vitamin & mineral supplements
Oral corticosteroids if disease does not subside w/ avoidance of gluten

Question 13

Complications of coeliac disease

6

Answer 13

Iron, folate & B12 deficiency
Osteomalacia
Ulcerative jejunoileitis
GI lymphoma (particularly T cell)
Bacterial overgrown 
Cerebellar ataxia (rarely)

Question 14

Prognosis of coeliac disease

2

Answer 14

FULL RECOVERY for most patients who adhere strictly to gluten free diet (for life)

Symptoms usually resolve in weeks but histological changes may take longer