Coeliac disease

Question 1

Define

Answer 1

An autoimmune condition in which the dietary glutens activate an anormal mucosal response with chronic inflammation and damage (villous atrophy) to the lining of the small intestine

Question 2

Causes

Answer 2

The gliadin fraction of gluten in wheat, barley and rye provokes a damaging immunological response in the proximal small intestine

• This results in a massive increase in the rate of migration of absorptive cells moving up the villi (enterocytes) from the crypts
• However, this is insufficient to compensate for increased cell loss from the villous tips
• This leads to the villi becoming progressively shorter and then absent, leaving a flat mucosa

Common; 1% of infants

HLA DQ2 (95%) and DQ8 (80%) association

Question 3

Presentation

Answer 3

Age of presentation: partly affected by the age of introduction of gluten into the diet

CLASSICAL- profound malabsorptive syndrome at 18-24 months of age after the introduction of wheat-containing weaning foods.

Other features include:
* Faltering growth
* Abdominal distension/ bloating
* Buttock wasting
* Abnormal stools
* General irritability
* Steatorrhea - pale, greasy, smelly stool

IMPORTANT: this ‘classical’ presentation is NO longer common- children are more likely to present less acutely in LATER childhood

Other features:
* Mild, non-specific GI symptoms
* Anaemia

It may also be identified on screening of children at increased risk (i.e. those with T1DM, autoimmune thyroid disease or Down syndrome) and first-degree relatives of individuals with known coeliac disease

Pathogenomic = dermatitis herpetiformis (pruritic papulovesicular elbow/knee rash)

Question 4

Investigation

Answer 4

1. Abdominal examination
2. Basic observations including weight and height
3. Bloods- Coeliac serology (below), FBC + ferritin, TFTs, LFTs, Vitamin B12 + D, calcium, U&Es
4. Serology!!!

NOTE: check IgA levels as IgA deficiency may interfere with result of serology

1. Anti-tissue transglutaminase antibodies (IgA anti-tTG) - MOST sensitive
2. Anti-endomysial antibodies - less sensitive

If IgA deficient -> IgG DGP / Deiminated Gliadin Peptide

Confirmation of diagnosis (n.b. grading with the ‘Marsh’ system):

• Older children / adults -> OGD + jejunal biopsy (villous atrophy, crypt hyperplasia, ↑ IELs)
• Very young children: no histopathological confirmation / biopsy -> EMA and HLA DQ2/DQ8 testing

Resolution of symptoms and catch up of growth following gluten withdrawal from the diet is also required to confirm a diagnosis of coeliac disease

Question 5

Management

Answer 5

MDT management:

• Remove all products containing wheat, rye and barley FOR LIFE
• MDT – dietician, child psychologist, school involvement, GP, paediatric gastroenterologist
• Dietician referral (if problems with adhering to the diet) and annual (6-12m) review:
  1. Regular checks of height, weight and BMI – check this at home
  2. Review symptoms
  3. Review adherence to diet
  4. Consider blood tests (coeliac serology, FBC, TFT, LFT, vitamin D, B12, folate, calcium, U&E)
  5. Support sources: Coeliac UK
  6. Explain the importance of keeping to a strict gluten-free diet

· Non-adherence to diet -> micronutrient deficiency (vitamin D, iron), osteoporosis, EATL, small bowel lymphoma hyposplenism

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Question 6

Complications

Answer 6

Complications

• Malabsorption- anaemia due to iron, folate or B12 deficiency
• Osteoporosis due to malabsorption of Calcium or vitamin D
• Faltering growth
• Delayed puberty
• Increased risk of fragility fractures
• Chronic pancreatitis with pancreatic insufficiency
• Hepatobiliary abnormalities- autoimmune hepatitis, PBC, PSC
• Lactose intolerance
• Malignancy- EATL
  Enteropathy-associated T-cell lymphoma (EATL)

Prognosis
* Rapid clinical improvement after starting gluten-free diet
* Children with reduced bone mass are more likely to restore bone mass at 6-12 months on gluten-free diet compared to adults

Question 7

Paces

Answer 7

PACES

Coeliac UK

Really stress importance of strict gluten free diet