Coeliac Disease

Question 1

What is coeliac disease?

Answer 1

Systemic autoimmune disease triggered by gluten peptides in wheat, barley, and rye, leading to GI symptoms, malabsorption, and systemic manifestations

Question 2

What is the incidence of coeliac disease in the UK?

Answer 2

1 in 100 people

Question 3

What is the pathophysiology of coeliac disease?

Answer 3

Gliadin fraction of gluten and other related prolamines in wheat, rye, and barley –> damaging immunological response in the proximal small intestinal mucosa –> increased migration of enterocytes moving up the villi –> but not enough to compensate for increased cell loss at villous tips –> progressively shorter villi –> FLAT MUCOSA

Question 4

How is tissue transglutaminase (tTG) involved in the pathophysiology of coeliac disease?

Answer 4

It is an enzyme that deamidates gluten peptides –> increased immunostimulation
Also is a target autoantigen in the immune response

Question 5

What are the genetic associations with coeliac disease? What are their relevance to patients?

Answer 5

HLA-DQ2 and HLA-DQ8

Almost all coeliac disease patients will have 1 of these 2

Question 6

What are the classical symptoms of coeliac disease?

Answer 6

Faltering growth
Abdominal distension
Buttock wasting
Abnormal stool (foul smelling, pale, bulky)
General irritability

Question 7

What are some other possible presentations of coeliac disease?

Answer 7

Mild, non-specific GI symptoms
Anaemia (from iron ± folate deficiency)
Severe/persistent mouth ulcers

Question 8

In which at-risk patients should serological testing to screen for coeliac disease be performed?

Answer 8

T1DM
AI thyroid disease
1st degree relative with coeliac disease

Question 9

What are the neurological symptoms of coeliac disease?

Answer 9

Cerebellar ataxia
Peripheral neuropathy
Epilepsy
Dementia
Depression
Also a broader spectrum of disorders, such as migraine, chorea, GBS etc.

Question 10

What investigations should be done for coeliac disease?

Answer 10

Serology (total IgA, IgA tTG, IgA endomysial antibodies (EMA), IgG DGP
Bloods - FBC (anaemia), LFTs (increased transaminases)
Small bowel biopsy

Question 11

What are the 1st line serological investigations for coeliac disease?

Answer 11

Total IgA

IgA tTG

Question 12

When would you test for IgA EMAs?

Answer 12

If 1st line is weakly positive or deficient

Question 13

What is the gold standard investigations for coeliac disease?

Answer 13

Small bowel (duodenal) biopsy

Question 14

What would be seen on duodenal biopsy in coeliac disease?

Answer 14

Subtotal villous atrophy
Crypt hyperplasia
BUT normal mucosal thickness

Question 15

What other diagnoses should be considered in coeliac disease?

Answer 15

IBS
Non-coeliac gluten sensitivity
Food intolerances
Colitis
Other causes of malabsorption

Question 16

What is non-coeliac gluten sensitivity?

Answer 16

Gluten-related symptoms w/o evidence of coeliac disease

Question 17

What is the main treatment for coeliac disease and what effect does it have on the disease features?

Answer 17

Gluten-free diet for life
Improves symptoms
Reverses histological features

Question 18

How is a gluten-free diet given to patients?

Answer 18

Supervised by paediatric dietician
Can be prescribed
Nutritional supplements may also be required
Yearly follow up

Question 19

What investigations are included in the annual follow-up for coeliac disease?

Answer 19

Coeliac serology
FBC
TFTs
LFTs
Vit D, B12, folate, calcium

Question 20

Why are TFTs and LFTs monitored in coeliac disease?

Answer 20

To screen for autoimmune thyroiditis and hepatitis

Question 21

What are the complications of coeliac disease?

Answer 21

Nutrient deficiencies
Osteoporosis
Ulcerative jejunitis
Functional hyposplenism
Growth failure
Delayed puberty
Dental problems

Question 22

What is the prognosis of coeliac disease?

Answer 22

Generally good if gluten free diet is adhered to

Question 23

What % of people with coeliac disease reach complete and lasting resolution of symptoms on gluten free diet alone?

Answer 23

Up to 90%

Question 24

What % of people will develop refractory coeliac disease?

Answer 24

<1%