Coeliac disease

Question 1

What is coeliac disease?

Answer 1

Most common genetically linked food intolerance

Lifelong gluten sensitive autoimmune disease of the small intestine

Question 2

What is the prevalence of coeliac disease?

Answer 2

1%

Question 3

Where in the world is coeliac disease more common?

Answer 3

Africa

Question 4

Describe the pathophysiology of coeliac disease

Answer 4

Combination of immunological reactions to the environment (gliadin) and genetic factors (HLADQ2/DQ8)
T cell mediated disorder
Immune system overreacts to gluten causing damage to the villi (villous atrophy and epithelial damage) and impairing absorption
Infant feeding practices, infections and gut bacteria may also play a role

Question 5

What are the main risk factors of coeliac disease?

Answer 5

Gluten in diet

Question 6

Where is gluten found?

Answer 6

Wheat, rye, barely

Found in cereals, bread, pasta

Question 7

List some conditions associated with coeliac disease

Answer 7

T1 DM
Autoimmune thyroid disease
Addison's disease
Rheumatoid disease 
Turner syndrome
Downs syndrome

Question 8

Describe the clinical presentation of the classical form of coeliac disease

Answer 8

9-24mo
Malabsorption - failure to thrive/weight loss
Steatorrhea 
Anorexia
Abdominal pain
Abdominal distension 
Muscle waste
Irritable behaviour
May have extra-abdominal symptoms if older

Question 9

What does histology of coeliac disease show?

Answer 9

Villous atrophy and crypt hyperplasia

Question 10

Describe how the atypical form of coeliac disease presents

Answer 10

No abdominal symptoms - just extra-abdominal symptoms

Question 11

List some extra-abdominal symptoms of coeliac disease

Answer 11

Osteoporosis
Peripheral neuropathy
Anaemia
Infertility

Question 12

Describe the latent form of coeliac disease

Answer 12

Presence of predisposing genes, positive serology but normal histology

Question 13

Describe the silent form of coeliac disease

Answer 13

Damaged small intestinal mucosa
Positive serology
No clinical symptoms

Question 14

Describe the potential form of coeliac disease

Answer 14

Normal mucosal morphology
Positive serology
May not be symptomatic
Genetically predisposed group

Question 15

List some extra-intestinal symptoms of coeliac disease

Answer 15

Dermatitis herpetiformis
Dental enamel hyperplasia
Osteoporosis
Delayed puberty
Short stature
Iron deficiency anaemia resistant to Fe
Liver and biliary disease
Arthritis
Peripheral neuropathy, epilepsy, ataxia

Question 16

List the differentials for coeliac

Answer 16

tropical sprue
Cystic fibrosis
IBS
Post-gastroenteritis
Autoimmune enteropathy
Eosinophilic` enteritis

Question 17

What investigations are done for coeliac disease?

Answer 17

Serology - Total immunoglobulin A (IgA), IgA tissue transglutaminase (tTG), IgA endomysial antibodies (EMA), IgG EMA, IgG deaminated gliadin peptide
HLADQ2/DQ8 - only if gluten challenge not available or in children not having biopsy

Biopsy - duodenal

Question 18

When will serological investigations for coeliac disease be accurate?

Answer 18

After 6 or more weeks of gluten in the diet

Question 19

Describe the Marsh classification for coeliac disease

Answer 19

Stage 9 - Normal
Stage 1 - Increased intraepithelial lymphocytes
Stage 2 - Increased inflammatory cells and crypt hyperplasia
Stage 3 - All of the above plus mild to complete villous atrophy - specific to coeliac disease

Question 20

How is coeliac disease managed?

Answer 20

Lifelong gluten free diet
Treat any deficiencies with iron and supplements
Annual follow up for symptoms, diet compliance and extra-abdominal symptoms or complications

Question 21

List the complications of coeliac disease

Answer 21

Anaemia
Osteopenia/osteoporosis
Refractory coeliac disease
Malignancy 
Fertility issues
Depression or anxiety