Coeliac disease and inflammatory bowel disease Flashcards
Coeliac disease
Gluten sensitive enteropathy or coeliac sprue
Auto- immune mediated disease of the small intestine triggered by ingestion of gluten
Malabsorption
Gluten
Protein compound of wheat, rye and barley left behind after washing off the starch
Consists of gliadin and glutenins
Genetic abnormalities od coeliac disease
Associated with HLA-DQ2 and HLA-DQ*
Genes located in Chr 6p21
Strong hereditary predisposition affecting ~ 10% first degree relatives
Who gets coeliac disease?
Most prevalent in western europe and united states
Down’s syndrome, type 1 diabetes mellitus, auto- immune hepatitis and thyroid gland abnormalities
How does gluten cause coeliac disease?
Gluten in wheat + small bowel mucosa
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Tissue transglutaminase
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Diamidates glutamine in gliadin
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Negatively charged protein
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IL-15
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Natural killer cells + intraepithelial T lymphocytes
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Tissue destruction + villous atrophy
How does coeliac disease present?
Short stature and failure to thrive in children
Diarrhoea: smelly and bulky stool, rich in fat
Weight loss and fatigue
Anaemia- folate and Fe deficiency
Ostopenia and osteoporosis- calcium and vitamin D deficiency
Classification of coeliac disease
Classical- malabsorption symptoms
Non- classical symptoms outside GI tract
- constipation, bloating alternate bowel habits
- heartburn, nausea, vomiting and dyspepsia
- recurrent miscarriage/ infertility
Investigations for coeliac disease
General: FBC, U and Es, LFTs
Serology:
- tissue transglutaminase
- endomysial IgA- connective tissue covering smooth muscle fibres
- deamidated gliadin peptide IgA and IgG
- sero negative coeliac disease
HLA D2 and HLA DQ8 in children
Duodenal biopsies
Microscopic features of coeliac disease
At least four biopsies sampled from duodenum at upper GIT endoscopy
On microscopy:
- villous atrophy
- crypt hyperplasia
- increase in lymphocytes in the lamina proporia
- increase in intraepithelial lymphocytes
- recovery of villous abnormality on gluten free diet
Complication of coeliac disease
Enteropathy associated T-cell lymphoma
High risk of adenocarcinoma of small bowel and other organs
Associated with dermatitis hepetiformis
Infertility and miscarriage
Refractory coeliac disease despite strict adherence to gluten free diet
What constitutes inflammatory bowel disease?
Crohn’s disease
Ulcerative colitis
Diverticular disease
Ischaemic colitis
Drug induced colitis
Infective colitis
CD and UC
Crohn’s disease
Idiopathic, chronic inflammatory bowel disease often complicated by fibrosis and obstructive symptoms and can affect any part of the GIT from mouth to anus
Epidemiology of Crohn’s disease
High prevalence in western world with increased incidence in patients of Jewish origin
Increasing incidence in Africa, South America and Asia
Bimodal presentation with peaks in the teens-20s and 60-70 year age groups
What causes CD?
Exact cause unknown
Genetic, infectious, immunological, environmental, dietary, vascular, smoking, NSAIDs and psychological factors
Defects in mucosal barriers
Genetics of Crohn’s disease
First degree relative have 13-18% increased risk
NOD2 known as IBD1 gene on Chr16 encodes protein that binds to intercellular bacteria peptoglycans