Coeliac Disease Flashcards
What is coeliac disease?
A condition in which T cell responses to gluten in the small bowel causes villous atrophy and malabsorption
What gene mutation is associated with coeliac disease?
- HLA DQ2
- HLA DQ8
What % of cases of coeliac disease are associated with HLA DQ2?
95%
What conditions are associated with coeliac disease?
- Autoimmune disease
- Dermatitis hepatoformis
What age does coeliac disease occur?
Can occur at any age, but peaks are in childhood and 50-60 years
What are the risk factors for coeliac disease?
- Family history
- Immunoglobulin A deficiency
- Type 1 diabetes
- Autoimmune thyroid disease
- Down’s syndrome
- Sjorgen’s syndrome
By how much does having a first degree relative with coeliac disease increase the risk?
6x
What are the signs and symptoms of coeliac disease?
- Steatorrhoea
- Diarrhoea
- Abdominal pain
- Bleeding
- Nausea and vomiting
- Apththous ulcers
- Angular stomatitis
- Weight loss
- Fatigue
- Weight loss
- Osteomalacia
- Failure to thrive
What investigations are done in coeliac disease?
- Serological testing
- Blood tests
- Duodenal biopsy whilst on gluten containing diet
- HLA DQ2 and DQ8 genotyping
What is looked for in serological testing in coeliac disease?
Test for total IgA and IgA tTG (tissue transglutminase antibody)
What should be done if IgA is weakly positive on coeliac disease testing?
Test for IgA endomysial antibodies (EMA)
What is it important to do when serologically testing for coeliac disease?
Tell patient to continue to eat gluten until they have had the blood test, as removing or reducing gluten will affect the results
What will be found on blood tests in coeliac disease?
- Decreased Hb
- Decreased B12
- Decreased ferratin
What will be found on duodenal biopsy in coeliac disease?
- Subtotal villous atrophy
- Increased intra-epithelial WBCs
- Crypt hyperplasia
Is a duodenal biopsy needed to diagnose coeliac disease?
Yes
