coeliac disease & IBS Flashcards

1
Q

what is coeliac disease?

A
  • gluten sensitive enteropathy or coeliac sprue
  • an auto-immune mediated disease of the small intestine triggering by the ingestion of gluten in genetically predisposed individuals leading to malabsorption with cessation of symptoms on a gluten free diet
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2
Q

what is gluten composed of?

A
  • protein compound of wheat, rye and barley which is left behind after washing off the starch
  • gluten consists of gliadin and glutenins
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3
Q

what are the genetic abnormalities of coeliac disease?

A
  • associated with HLA-DQ2 and HLA-DQ8 in 95% and 5% of the patients respectively
  • the genes are located on Chronic 6p21
  • it has a strong hereditary predisposition affecting around 10% of first degree relatives
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4
Q

how does gluten cause coeliac disease?

A

1) gluten in wheat + small bowel mucosa
2) tissue transglutiminase
3) diamidates glutamine in gliadin
4) negatively charged protein
5) IL-15
6) natural killer cells + intraepithelial T lymphocytes
7) tissue destruction + villous atrophy

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5
Q

what are the symptoms of coeliac disease?

A
  • flat mucosa does not absorb nutrients and leads to symptoms of coeliac disease
  • asymptomatic coeliac disease: detected by blood test
  • classical coeliac disease
  • atypical coeliac disease
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6
Q

what are the gastrointestinal symptoms of classic coeliac disease?

A
  • diarrhoea: smelly & bulky stool, rich in fat
  • flatulence
  • borborygmus
  • weight loss
  • children fail to thrive
  • weakness & fatigue
  • severe abdominal pain
  • irritable bowel like symptoms
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7
Q

what are the extra-intersisital symptoms of atypical coeliac disease?

A
  • anaemia
  • osteopenia and osteoporosis
  • muscle weakness, pins and needles, loss of balance
  • itchy skin conditions
  • lack of periods, delayed periods in teenagers
  • infertility in women
  • impotence and infertility in men
  • bleeding disorders due to vitamin K deficiency
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8
Q

what investigations are done for coeliac disease?

A
  • FBC, U&E, LFTs
  • tissue transglutaminase IgA
  • endomysial IgA; connective tissue covering the smooth muscle fibres
  • deaminated gladden peptide IgA & IgG
  • for monitoring compliance to gluten free diet
  • zero-negative coeliac disease
  • HLA DA2 and HLA DQ8 in children with positive TGA and symptoms to avoid biopsies
  • duodenal biopsies
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9
Q

how do coeliac tests work?

A
  • assess tissue damage
  • when the small bowel is exposed to gluten there is an overreaction of the immune system to produce antibodies to the proteins involved in tissue damage
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10
Q

what are the microscopic features of coeliac disease?

A
  • villus atrophy (VA)
  • crypt hyperplasia
  • increase in lymphocytes in the lamina propria/chronic inflammation
  • increase in intraepithelial lymphocytes (IEL)
  • recovery of villous atrophy on gluten-free diet
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11
Q

what are the complications of coeliac disease?

A
  • enteropathy associated T-cell lymphoma
  • high risk of adenocarcinoma of small bowel, and other organs (large bowel, oesophagus, pancreas)
  • may be associated with dermatitis hepeiformis
  • infertility and miscarriage
  • refractory coeliac disease despite strict adherence to gluten free diet
  • gluten free diet mat reduce risk of complications
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12
Q

what constitutes inflammatory bowel disease?

A
  • Crohn’s disease
  • ulcerative colitis
  • diverticular disease
  • ischaemic colitis
  • drug included colitis (NSAIDs)
  • infective colitis
  • CD and UC = collectively known as idiopathic inflammatory disease (IBD)
  • some overlap in aetiology, clinical presentation, morphological features and treatment
  • important to distinguish CD from UC because of different complications of different surgical procedures
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13
Q

what is Crohn’s disease?

A

an idiopathic, chronic inflammatory bowel disease often complicated by fibrosis and obstructive symptoms and can affect any part of the GIT from mouth to anus

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14
Q

what religion has a high risk of Crohn’s disease?

A

Judaism

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15
Q

what causes Crohn’s disease?

A
  • the exact cause is unknown
  • genetic, infectious, immunological, environmental, dietary, vascular, smoking NSAIDs and psychological factors have all been implicated
  • defects in mucosal barriers which allow pathogens and other antigens to induce an unregulated inflammatory reaction
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16
Q

what are the genetics of Crohn’s disease?

A
  • strong scientific evidence for genetic predisposition to CD
  • first degree relatives have 13-18% increased risk of developing CD with a 50% concordance in monozygotic twins
  • no classicalmedelian inheritance but polygenic
  • NOD2 gene alsoCARD15 on Chr16 encodes a protein associated with to uncontrolled inflammatory response to luminal contents and microbes
17
Q

what doubles the risk of Crohn’s disease?

A

smoking

18
Q

what are the clinical features of Crohn’s disease?

A
  • chronic, indolent course punctuated by peirods of remission and relapses
  • abdominal pain, relieved by opening bowels
  • prolonged non-bloody diarrhoea
  • blood may be present is the colon is involved
  • loss of weight, low grade fever
19
Q

what is the distribution of Crohn’s disease?

A
  • affects any part of GIT from mouth to anus
  • small bowel alone = 40%
  • large bowel alone = 30%
  • small and large bowel = 30%
20
Q

what are the morphological features of Crohn’s disease?

A
  • fat wrapping of the serosa
  • involves the bowel in a segmental manner where normal bowel is separated by abnormal bowel to give risk to skip lesions
  • ulceration of the mucosa to give rise a cobblestone pattern
  • strictures due to fibrosis
21
Q

what are the microscopic appearance of Crohn’s disease?

A
  • transmural or full thickness inflammation of the bowel wall
  • mixed acute and chronic inflammation
  • preserved crypt architecture
  • mucosal ulceration
  • fissuring ulcers
  • granulomas present in 60-65%
  • fibrosis of the wall
22
Q

what are the complications of Crohn’s disease?

A
  • intra-abdominal assesses
  • deep ulcers lead to fistula = communications between 2 mucosal surfaces
  • sinus tract = blind ended tract ends in a ‘cul de sac’
  • obstruction due to adhesions
  • obstruction due to strictures caused by increased fibrosis
  • perianal fistula and sinuses
  • risk of adenocarcinoma but not as high in UC
23
Q

what is ulcerative colitis (UC)?

A

a chronic inflammation bowel disease which only affects the large bowel from the rectum to the caecum. unlike CD, the inflammatory process is confined to the mucosa and sub-mucosa except in severe cases

24
Q

who is ulcerative colitis more prevalent in?

A
  • Jews

- peaks between 20-25 years

25
Q

what causes ulcerative colitis?

A
  • cause is unknown
  • multiple factors are implicated
  • generic predisposition: high incidence in first degree relatives and high concordance in twins & HLA-B27 identified in most patients but not thought to be an aetiological factor
  • no specific infective agent has been identified
  • smoking actually protects so stopping smoking may trigger it
  • NSAIDs exacerbates it
  • antioxidants vitamins A and E are round in low levels
26
Q

what are the clinical features of ulcerative colitis?

A
  • intermittent attacks of bloody diarrhoea
  • mucoid diarrhoea
  • abdominal pain
  • low grade fever
  • loss of weight
27
Q

what are the macroscopic features of ulcerative colitis?

A
  • affects the large bowel from rectum to caecum
  • can affect rectum only, left sided bowel only or whole large bowel
  • despite the term ‘ulcerative’ there are no ulcers on endoscopic examination in early disease
  • diffuse mucosal involvement which appears haemorrhagic
  • with chronicity, the mucosa becomes flat with shortening of the bowel
28
Q

what are the microscopic features of ulcerative colitis?

A
  • inflammation confined to the mucosa
  • diffuse mixed acute and chronic inflammation
  • crypt architecture distortion
  • in quiescent UC, the mucosa may be atrophic with little or few inflammatory cells in he lamina proprietor
29
Q

what are the complications of ulcerative colitis?

A
  • complications invariable lead to surgety
  • refractory to medical treatment
  • toxic mega colon = bowel grossly dilated (patient very ill, bloody diarrhoea, abdominal distention, electrolyte imbalance with hypoproteinaemia)
  • refractory bleeding
  • dysplasia or adenocarcinoma in patients at risk
  • after 8-10 years of UC patient require annual screening colonoscopy
30
Q

what are the extra-intestinal manifestations of CD and UC?

A
  • ocular: uveitis, iritis, episcleritits
  • cutaneous: erythema nodosum, pyoderma, gangernosum
  • arthropathies: ankylosing spondylitis
  • hepatic: screlosing cholangitis
31
Q

what investigations do you do in CD and UC?

A
  • FBC
  • U&Es
  • LFTs
  • inflammatory markers - C reactive protein
  • faecal calprtectin
  • endoscopy and biopsies
  • radiological imaging: barium studies, MRI, USS and CT scan