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 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

Presenting 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 physical examination

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 (bloods)

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

Question 7

Investigations (other)

Answer 7

· 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 8

Management plan

Answer 8

· 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 9

Possible complications

Answer 9

· Iron, folate and B12 deficiency
· Osteomalacia
· Ulcerative jejunoileitis
· GI lymphoma (particularly T cell)
· Bacterial overgrowth
· Cerebellar ataxia (rarely)

Question 10

Prognosis

Answer 10

· 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