Coeliac disease

Question 1

What is coeliac disease?

Answer 1

Coeliac disease = autoimmune inflammatory disease triggered by dietary gluten peptides

Question 2

What is the aetiology of coeliac disease?

Answer 2

T cell mediated inflammation causes villous atrophy and malabsorption (including of bile acids)

Gliadin stimulates IL-15 in epithelial cells, which causes NK cell and lymphocyte activation

Gluten peptides found in wheat, rye and barley

Need both environmental and genetic factors
Carry a susceptible major histocompatibility complex
Environmental trigger: timing of initial exposure, GI infection

Question 3

What are the risk factors for coeliac disease?

Answer 3

FHx
Genetics – almost all carry one of the two (HLA-DQ2/DQ8)
HLA-B8, HLA-DR3, HLA-DQW2
Autoimmune disease

Question 4

What is the epidemiology for coeliac disease?

Answer 4

Relatively high incidence - 1 in 300 in West Ireland, 1 in 2000 in UK (Far less common in South Asia)

Women tend to present more

20% of cases are thought to be silent

Bimodal distribution (but can be any age) - peak in infancy and 50-60yrs

10% prevalence in first degree relatives

30% risk for siblings

Question 5

What are the symptoms of coeliac disease?

Answer 5

Can be Asymptomatic

Diarrhoea
Steatorrhoea
Abdominal pain
Bloating
Malaise
Weight loss
Failure to thrive in children

Question 6

What are the signs of coeliac disease?

Answer 6

Anaemia (Pallor)

Dermatitis herpetiformis - Intensely pruritic papulovesicular lesions occurring systemically over extensors of limbs

Malnutrition - Short stature, abdominal distension, weight loss

Peripheral neuropathy

Recurrent infections

Vitamin/mineral deficiencies - Osteopenia, easy bruising, angular stomatitis, peripheral neuropathies

Question 7

What are appropriate investigations for coeliac disease?

Answer 7

Bloods
FBC - Microcytic anaemia (IDA)
Serum immunology – 95% specificity/sensitivity
Elevated IgA-tTG (tissue transglutaminase) – 1st line
Elevated EMA (endomysial Ab) - expensive
Elevated IgG DGP (deaminated gliadin peptide)

Skin biopsy (dermatitis herpetiformis)

Granular deposits of IgA

Other investigations
HLA typing – HLA-DQ2/DQ8
Endoscopy and biopsy = gold standard after positive serology
Atrophy and scalloping of mucosal folds
Crypt hyperplasia
Histology – presence of intra-epithelial lymphocytes and villous atrophy

Question 8

What is the management of coeliac disease?

Answer 8

Life-long gluten free diet and referral (Only accepted treatment)

Acceptable: rice, maize, soya, potatoes, oats, sugar

Calcium and vitamin D and iron supplement: Ergocalciferol and calcium carbonate and ferrous sulphate

Question 9

What are possible complications of coeliac disease?

Answer 9

Anaemia
Lactose intolerance
Osteoporosis
Dermatitis herpetiformis

Malignancy - GI T cell lymphoma and upper GI carcinoma
Only 1.3% increased risk
Other malignancies – gastric, oesophageal, bladder, breast, brain

Idiopathic recurrent pancreatitis
Hyposplenism
Myopathies
Neuropathies

Question 10

What is the prognosis of coeliac disease?

Answer 10

90% will have complete and lasting resolution of symptoms of gluten free diet

Remaining 10% attributed to ongoing exposure, lactose intolerance and IBS

Less than 1% become refractory