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What is coeliac disease?


In what type of person is it a common presentation?

it is an autoimmune condition in which an individual becomes sensitive to gluten 


  • it is a common presentation in young Caucasians with general non-specific diarrhoea 


  • there is often abdominal discomfort too - this could be pain or bloating 


What are the most common symptoms of coeliac disease?

  • chronic diarrhoea


  • abdominal distention


  • malabsorption (which can lead to constant fatigue)


  • crampy abdominal pains


  • loss of appetite


  • weight loss


  • dermatitis herpetiformis


  • some people may be asymptomatic


What is dermatitis herpetiformis and why does it have this name?

  • pruritic papulovesicular lesions which present in a symmetrical distribution


  • often present on the elbows, knees and buttocks


  • it resembles herpes simplex 


What increases the genetic risk of coeliac disease?


What other autoimmune conditions is it associated with?

  • HLA-DQ2 (95%) and HLA-DQ8 (80%)


  • it is associated with dermatitis herpetiformis and other autoimmune conditions


  • this includes type 1 diabetes, autoimmune hepatitis and autoimmune thyroid disease


What do investigations and examinations tend to show in someone with coeliac disease?

  • examination and imaging tends to be unremarkable


  • blood tests will show iron-deficiency anaemia


  • patient may also be vitamin D deficient due to malabsorption and diarrhoea 
    • this contributes to constant fatigue


What happens when someone with coeliac disease eats gluten?


How does this lead to iron-deficiency anaemia?

  • when gluten is consumed, an abnormal immune response leads to the production of autoantibodies


  • these can attack various different organs 


  • in the small bowel, autoantibodies cause an inflammatory reaction that leads to shortening of the villi
    • this is villous atrophy


  • this means that less nutrients can be absorbed, leading to anaemia 


What are the first line investigations for someone with suspected coeliac disease?



  • these are used to identify the presence of any antibodies against gluten


  • tissue transglutaminase (tTG) IgA antibodies 
    • this is highly sensitive and highly specific


  • endomysial IgA antibodies 
    • this is to exclude a selective IgA deficiency which could produce a false negative to tTG


What is the gold standard test to diagnose coeliac disease?


What must the patient do prior to this test?

duodenal biopsy during endoscopy


  • if the patient is on a gluten-free diet, they need to resume consumption of gluten >/= 6 weeks before the test


  • otherwise they will not form antibodies against gluten and their bowels will look normal


What 3 features are looked for on a biopsy in coeliac disease?

  • blunted villi as a result of subtotal villus atrophy


  • crypt hyperplasia


  • increased intra-epithelial lymphocytes & infiltration of lamina propria lymphocytes


What is meant by villous atrophy?

  • this occurs when the finger-like villi of the small intestine erode away to leave a virtually flat surface


  • this leads to reduced absorption of nutrients from the diet




What is crypt hyperplasia and why does it occur in coeliac disease?

  • the crypts are the site of epithelial stem cells in the intestine


  • to replace the loss of enterocytes, the number of actively dividing cells in the crypts increases


  • there is elongation of the crypts of Lieberkühn


What is the first stage in the management of coeliac disease?

starting a gluten-free diet


this involves avoiding:

  • wheat
    • e.g. pasta, bread, pastry
  • barley
    • e.g. beer
  • rye


  • people with coeliac disease have variable tolerance to oats
    • some people can eat these and some need to avoid them


Despite having a gluten-free diet, what can people with coeliac disease still eat?

  • whisky as this contains malted barley


  • rice


  • potatoes


  • corn / maize


What are the other stages involved in the management of coeliac disease?

  • check for nutritional deficiencies
    • iron, vitamin D, vitamin B12, folate


  • offer the pneumococcal vaccine, followed by a booster every 5  years


Why is the pneumococcal vaccine offered to patients with coeliac disease?

  • coeliac disease is associated with functional hyposplenism


  • the spleen is not functioning as well as normal


  • patients are at increased risk of serious infections from encapsulated bacteria


What is meant by inflammatory bowel disease (IBD)?

  • this is an umbrella term for 2 conditions - Crohn's & UC


  • it is characterised by chronic inflammation of the GI tract, with unknown aetiologies


  • prolonged inflammation results in damage to the GI tract


What are the non-specific symptoms associated with inflammatory bowel disease (IBD)?

  • diarrhoea


  • abdominal pain


  • PR bleeding / bloody stools
    • this is much more common in ulcerative colitis than Crohn's


  • weight loss


  • fatigue


What % of IDB is either Crohn's or UC?


What is the other %?

  • 90% of IBD is either Crohn's or UC


  • 10% is indeterminate colitis 
    • ​patient has symptoms and diagnostic test results that show IBD, but do not definitively place them into Crohn's or UC



Which parts of the GI tract are affected in Crohn's disease?

  • affects the entire GI tract


  • produces patchy inflammation throughout small and large bowel


  • it is characterised by the presence of skip lesions
    • lesion in one part of the bowel, skip some bowel and then a lesion further on


  • there is usually involvement of the distal ileum / ileocaecal junction


What type of inflammation is present in Crohn's disease?

transmural inflammation


  • this describes inflammation across all layers of the GI tract


What is involved in the pathophysiology of ulcerative colitis?

  • this only affects the large bowel / colon


  • there is continuous and uniform inflammation in the large bowel


  • sometimes it can extend to the caecum & ileum, but it often does not progress this far


  • it continues distally from the anus


What type of inflammation is present in ulcerative colitis?

inflammation does not go past the submucosa


What are the risk factors for inflammatory bowel disease that are the same for both Crohn's and UC?

  • age of onset - there is a biphasic distribution
    • it is more common between 15 to 30 and 50 to 80


  • Jewish > white > black / hispanic


  • positive family history


How does smoking impact inflammatory bowel disease?

  • smoking INCREASES the risk of Crohn's disease


  • smoking DECREASES the risk of ulcerative colitis 


  • if someone has many vague symptoms and a strong smoking history, it is more likely to be Crohn's disease


What are other risk factors that are specific for Crohn's disease?

  • refined sugar-rich diet


  • oral contraceptive pill


  • not being breastfed as a child


  • NSAID use


What are other risk factors that are specific to ulcerative colitis?

  • NSAID use


What acronym can be used to remember presenting features that occur in both Crohn's and UC?

the acronym DWARF can be used


  • D - Diarrhoea
    • UC is more likely to have bloody diarrhoea


  • W - Weight loss


  • A - Abdominal pain
    • in Crohn's, this is a crampy RLQ pain (over ileocaecal valve)
    • in UC, this pain starts as crampy and becomes very severe


  • R - Rectal bleeding


  • F - Fatigue 


What are some presenting features that are specific to Crohn's disease?

  • aphthous ulcers
    • ulcers in the mouth as Crohn's can affect the entire GIT


  • arthritis (in 20% cases)


  • cutaneous lesions 
    • erythema nodosum
    • pyoderma gangrenosum


  • features indicating fistulae 


What are some presenting features that are specific to ulcerative colitis?

  • arthritis / ankylosing spondylitis
    • this is less likely than in Crohn's


  • fever


  • cutaneous lesions
    • erythema nodosum
    • pyoderma gangrenosum


  • episcleritis / uveitis