Coeliac disease

Question 1

What is coeliac disease?

Answer 1

An autoimmune disease where exposure to gluten causes an autoimmune reaction causing inflammation in small bowel

Question 2

What is the pathology in coeliac disease?

Answer 2

Auto-antibodies are created in response to exposure to gluten and they target the epithelial cells of the intestine and lead to inflammation.

This causes villous atrophy and results in malabsorption

Question 3

What are the autoantibodies in coeliac disease?

Answer 3

Anti-TTG (anti-tissue transglutaminase)

Anti-EMA (anti-endomysial)

Question 4

Presentation of coeliac disease

Answer 4

Failure to thrive in young children

Diarrhoea
Fatigue
Weight loss
Mouth ulcers
Anaemia secondary to iron, B12 or folate deficiency

Dermatitis herpetiformis (an itchy blistering skin rash typically on the abdomen)

Rarely with neurological symptoms:

• Peripheral neuropathy (B12 def)
• Cerebellar ataxia
• Epilepsy

Question 5

Which other autoimmune disease is particularly linked with coeliac disease?

Answer 5

T1DM

Question 6

Genetic associations in coeliac disease

Answer 6

HLA-DQ2 gene (90%)

HLA-DQ8 gene

Question 7

Investigations in coeliac disease

Answer 7

Investigations must be done while the patient is on a diet containing gluten (otherwise it may not be possible to detect antibodies or inflammation in the bowel)

Initial investigation:
- Check total IgA levels to exclude IgA deficiency before checking for auto-antibodies
- Anti-TTG (raised)
(Can also check anti-EMA which will also be raised)

If IgA deficient, can test for the IgG version of anti-TTG or anti-EMA antibodies or simply do an endoscopy with biopsies

GOLD STANDARD DIAGNOSTIC INVESTIGATION IS:

• Endoscopy with biopsy
• Will show villous atrophy and crypt hypertrophy

Question 8

Which other conditions is coeliac disease associated with?

Answer 8

Other autoimmune conditions:

Type 1 Diabetes
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis

Question 9

Complications of untreated coeliac disease

Answer 9

Vitamin deficiency
Anaemia
Osteoporosis
Ulcerative jejunitis

Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)

Small bowel adenocarcinoma (rare)

Question 10

Treatment of coeliac disease

Answer 10

Lifelong gluten-free diet is essentially curative