Coeliac disease Flashcards

1
Q

What are the symptoms of coeliac disease?

A
  • chronic diarrhoea
  • Fatigue
  • Bloating
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2
Q

What are the characteristics of coeliac disease?

A
  • Chronic
  • Systemic
  • Immune-mediated disorder
  • Affects genetically predisposed pts
  • Triggered by ingesting gluten
  • Has serious morbidity if untreated and up to 4 fold increase in risk of death
  • Can be associated with bowel cancers/lymphoma
  • Can be associated with other autoimmune conditions (thyroid, type 1 DM, RA)
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3
Q

What happens when someone with coeliac disease ingests gluten

A
  • Mucosal inflammation
  • Crypt hyperplasia
  • Villous atrophy
  • The immune system mistakenly thinks the gluten is a foreign invader
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4
Q

What is the presentation of someone with coeliac disease

A
  • Non specific GI symptoms
  • Malabsorption (diarrhoea, nutritional deficiencies- with consequences including anaemia, osteoporosis)
  • Can be associated with bowel cancers/lymphoma
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5
Q

What is the treatment for coeliac disease?

A

strict gluten free diet (GFD)

  • Potentially reversible villous atrophy in most cases on a strict GFD
  • Rare cases are refractory
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6
Q

Outline the genetic predisposition involved in coeliac disease

A
  • All pts with CD carry HLA-DQ2 (95% of pts) or DQ8 (5% of pts)
  • Not all positive gene tests have CD. About 30-50% of the general pop. without CD are carriers of the gene . Therefore HLA testing is a good NEGATIVE predictor- cos if they DON’T have the gene, they are very unlikely to ever develop the disease
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7
Q

How do we diagnose CD

A
  • OGD & duodenal biopsies are gold standard
  • Increased intraepithelial lymphocytes, crypt hyperplasia & villous atrophy
  • Blood tests could come out with a lot of false negatives/positives
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8
Q

How can we classify the histology of the duodenum

A

MARSH CLASSIFICATION:

  • Includes 3 factors: intraepithelial lymphocytosis, crypts & villi
  • Marsh score run from 0-4 ( 0 being normal)
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9
Q

Outline the GI clinical manifestations of CD

A
  • Diarrhoea
  • Flatulence
  • Abdominal cramps
  • Nutrient deficiency
  • Weight loss
  • Abnormal liver enzymes

RARE=

  • ulcerative jejunitis
  • Enteropathy-associated T-cell lymphoma (EATL-a Non Hodgkin’s lymphoma)
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10
Q

Outline the haemotological clinical manifestations of CD

A
  • Anaemia (iron or folate less common B12
  • Hyposplenism
  • Bleeding disorders
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11
Q

Outline the skin clinical manifestations of CD

A

dermatitis herpetiformis (blistering intensely itchy rash on extensor surfaces)

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12
Q

Outline the musculoskeletal clinical manifestations of CD

A
  • osteopenia
  • osteoporosis
  • stunted growth in children
  • vitamin D deficiency and hypocalcaemia
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13
Q

What is osteopenia

A
  • Think of it as a midpoint between having healthy bones and having osteoporosis.
  • Bones are weaker than normal but it is not a disease
  • Have a lower bone density than normal
  • increases your chances of developing osteoporosis
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14
Q

Outline the neurological clinical manifestations of CD

A
  • Muscle weakness
  • Paraesthesia
  • Ataxia
  • Seizures(may occur secondary to cerebral calcification
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15
Q

Outline the hormonal clinical manifestations of CD

A
  • Amenorrhoea

- Infertility

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16
Q

What serology may indicate presence of CD

A
  • IgA TTG or EEA (will be positive in about 98% of CD pts who are on a gluten containing diet)
  • IgG TTG
17
Q

Which substances do CD pts have abs against?

A
  • TTG
  • Endomysial
  • Gliadin
18
Q

What is gliadin

A

-component of glucose that allows bread to rise in bread making

19
Q

What is the deamidated IgA gliadin test

A
  • Very specific to coeliac disease
  • If positive, you’re extremely likely to have the condition.
  • However, like the EMA-IgA blood test, it may also miss some people who actually have coeliac disease
20
Q

Define deamidated

A

-An amide functional group is removed or converted to another functional group

21
Q

What is the function of deamidated gluten

A
  • Activates T helper cells

- Creates high-affinity binding with DQ2 or DQ8

22
Q

What is the function of the B cells involved in the pathophysiology of CD

A

Produce antibodies against endomysial, gliadin and TTG

23
Q

Which cytokines are responseible for epithelial cell death and mucosal damage in the pathophysiology of CD

A
  • The APC of a pt with CD contains HLA-DQ2/DQ8 and this binds to a T helper cell which has been activated by deamidated gluten
  • This activation causes release of IFN-gamma and TNF-alpha
  • T helper cell also causes production of abs by B cells
24
Q

Which cytokines are responsible for epithelial cell death and mucosal damage in the pathophysiology of CD

A
  • The APC of a pt with CD contains HLA-DQ2/DQ8 and this binds to a T helper cell which has been activated by deamidated gluten
  • This activation causes release of IFN-gamma and TNF-alpha
  • T helper cell also causes production of abs by B cells
25
Q

What are the differential diagnosis of CD

A
  • viral/bacterial enteritis
  • Crohn’s
  • Small bowel bacterial overgrowth
  • IBS
  • Microscopic colitis
  • Protein loosing enteropathy
  • Malabsorption
  • Immunodeficiency ( severe combined immunodeficiency can have villous atrophy)
26
Q

Does smoking increase the risk of having coeliac or Crohn’s disease?

A

Crohn’s disease

27
Q

What is the inheritance pattern of Coeliac disease

A
  • Unknown

- But CD tends to cluster in families

28
Q

How can we manage CD

A
  • Vitamin and mineral supplements
  • GFD
  • Dietitian support
29
Q

What is characteristic on duodenal biopsy in coeliac disease ?

A
  • Crypt hyperplasia

- Villous atrophy