coeliac and inflammatory bowel disease Flashcards
what is coeliac disease
gluten sensitive enteropathy or coeliac spruce
AI mediated disease of SI triggered by gluten in genetically predisposed individuals leads too malabsorption
cessation of symptoms when no gluten in diet
what is gluten
compound of wheat, rye and barely left behind after washing off the starch
consists of gliadin and glutenins
what are the genetic abnormalities of coeliac disease
ass with HLA-DQ2 and HLA-DQ8 in 95/5%
genes located on Chr 6p21
others being investigated
strong hereditary predisposition affecting 10% first degree relatives
who gets coeliac disease
Western Europe and USA, esp Irish and Scandanavian
inc in africa and asia
lots have it undiagnosed
high prevalence in downs syndrome, T1 DM, AI hepatitis, thyroid gland abnormalities
bimodal presentation in childhood and late 30s, 20% over 60
how does gluten cause coeliac disease
gluten in wheat and small bowel mucosa tissue transglutaminase dominates glutamine in gliadin neg charged protein IL-15 Natural killer Tc ells and intraepithelial T lymphocytes tissue destruction and villous atrophy
what does wheat do to the small bowel mucosa
inflammation and flat lining (crypts but loss of villi)
what are the types of coeliac disease
malabsorption leads to symptoms
asymptomatic coeliac disease - blood test
classical and atypical CD
symptoms of classic CD with GI symptoms
diarrhoea (smelly, bulky, rich in fat) flatulence in some borborygmus weight loss in kids - fail to thrive weakness and fatigue sev abdo pain IBS like symptoms
classic presentation of ssteatorhoea
bulky pale offensive stool
rich in fat
atypical CD due to extra intestinal symptoms
anaemia
osteopenia and osteoporosis
muscle weakness, pins and needles, loss of balance
itchy skin conditions eg dermatitis
lack of periods, delayed periods, infertility in women and infertility and impotence in men
bleeding disorders due to vit K deficiency
atypical presentation of CD
emaciation
pot belly due to gaseous distension
muscle wasting
osteoporosis
investigations for CD
general - FBC, U and Es, LFTs
serology - TTGA, endomysial IgA (CT covering smooth muscle fibres), deaminated gliadin peptide (IgA and G). gluten free disease
can be neg in 6.4-9%
genetics and +TTGA to avoid biopsy in kids
duodenal biopsy
how do routine coeliac disease tests work
assess tissue damage
overreaction of immune system - antibodies to protein involved in damaged eg TTGA (tissue transglutaminase), endomysium and deaminated gliadin peptide
microscopic features of coeliac disease
at least 4 biopsies sampled from duodenum at upper GIT endoscopy as can be patchy
there is
villous hypertrophy, crypt hyperplasia, inc lymphocytes in lamina propria/chronic inflammation, intraepithelial lymphocytes, recovery of villous atrophy on gluten free diet
what is villous atrophy
chronic inflammation (packed full of blue cells) crypt hyperplasia to replace villi
complications of coeliac disease
enteropathy associated T-cell lymphoma
high risk of adenocarcinoma in SB and other organs (LB, Yes, panc)
ass dermatitis hepetiformis
infertility and miscarriage
refractory coeliac disease despite sticking to diet
may be reduced by diet