Coeliac Disease

Question 1

Define Coeliac disease, its aetiology, risk factors and epidemiology.

Answer 1

Definition- Inflammatory disease cause by gluten intolerance, causing chronic intestinal malabsorption

Aetiology- Sensitivity due to the Gliadin component of gluten. Exposure triggers immune reaction in small intestine = mucosal damage + loss of villi.

Risk factors- 10% risk of first degree relatives being affected.
- Genetic susceptibility associated with HLA-B8, HLA-DR3 + HLA-DQW2 haplotypes

Epidemiology:

• UK: 1/2000
• West Ireland: 1/300
• Rare in east Asia

Question 2

Describe the history/presenting symptoms of coeliac disease

Answer 2

• May be asymptomatic
• Abdominal discomfort with pain and distention
• Diarrhoea and Steatorrhoea (pale bulky stool, with offensive smell)
• Tiredness, malaise, weight loss
• Children: Failure to thrive
• Young adults: Amenorrhoea

Question 3

What are the signs of coeliac disease upon physical examination?

Answer 3

• Anaemia: pallor
• Malnutrition: short stature, abdominal distention, triceps skinfold thickness is an indication of fat stores,wasted buttocks (children).
• Vitamin/mineral deficiencies: Osteomalacia, easy bruising
• Dermatitis herpetiformis: intense, itchy blisters on elbows, knees or buttocks

Question 4

What investigations are used to identify coeliac disease?

Answer 4

• Blood: FBC, (low Hb, iron and folate), U&E, albumin, Calcium and phosphate.
• Serology: Testing for IgG anti-gliadin antibodies, IgA & IgG anti-endomysial transglutaminase can be diagnostic. IgA deficiency is common so should be tested to avoid false negative.
• 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 small intestine (mucosa appears flat and smooth).
  
  • Duodenum: villous atrophy and crypt hyperplasia.
  • Lamina propria: cuboidal appearance of epithelium, inflammatory infiltrate of lymphocytes and plasma cells.

Question 5

How is coeliac disease managed?

Answer 5

• Advice: Avoid gluten (Wheat, rye and barley)

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

Question 6

What are the possible complications of coeliac disease?

Answer 6

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

Question 7

Summarise the prognosis for patients with coeliac disease

Answer 7

• Full recovery in most patients who adhere to strict non-gluten diet (for life).
• Symptoms resolve within weeks, histological changes take longer.