Coeliac Disease Flashcards
What is coeliac disease?
A T-cell mediated autoimmune disease where exposure to gluten results in inflammation of the small intestine.
What does inflammation of the small intestine result in?
Particularly jejunum –> villous atrophy + malabsorption
2 peaks of presentation?
(1) Infancy
(2) 50-60 yrs
Which 2 auto-antibodies are created in response to gluten and attack epithelial cells?
(1) anti-tissue transglutaminase (anti-TTG)
2) anti-endomyseal (anti-EMA
Sign in young children?
Failure to thrive or weight loss
GI symptoms?
- Abdo pain + distension
- N&V
- diarrhoea, steatorrhoea
- fatigue, weakness, weight loss
General appearance?
(1) pallor - anaemia?
(2) SHORT STATURE + WASTED BUTTOCKS
(3) vit deficiencies
Dermatological manifestation?
Dermatitis herpetiformis (ITCHY papulovesiclar lesions over bum + extensor surfaces)
Which new diagnosed patients would you screen for coeliac disease?
T1 Diabetes
Associated diseases?
(1) T1 Diabetes
(2) AI - Graves disease or Hashimotos thyroiditis
(3) PBC, PSC
Complications if untreated?
(1) Anaemia - iron deficiency
(2) vitamin deficiencies - B12, folate
(3) Osteoporosis
(4) Enteropathy-associated T-cell lymphoma (EATL)
(5) Non-Hodgkins lymphoma
(6) Small bowel adenocarcinoma (rare)
(7) Hyposplenism
(8) Lactose intolerance
Most common genetic association?
(1) HLA-DQ2 (90%)
Also HLA-DQ8
Initial Investigations?
Serological testing (remain eating gluten for 6 weeks):
1) IgA-TTG (w/ total IgA
(2) IgA-EMA
What test would you carry out initially if the patient was IgA deficient?
IgG-TTG, IgG-EMA
Gold standard investigation to confirm diagnosis after positive serology?
OGD w/ jejunal/duodenal biopsy