Coeliac Disease Flashcards
What is coeliac disease?
Coeliac disease is a chronic inflammatory disease involving the small bowel which is induced in genetically susceptible people possibly by various environmental co-factors and triggered by food containing gluten. It is characterised by intraepithelial lymphocytosis, crypt hyperplasia and villous atrophy.
Who gets coeliac disease?
About 1% of the population. Presents at any age but usually at 6-24 months with the introduction of the gluten diet.
What are the food groups that people who have coeliac disease shouldn’t eat?
BROW B – Barley R – Rye O – Oats (due to the storage of oats around wheat #controversial) W – Wheat
What are the 3 separate causes/triggers of coeliac disease?
Trigger is the BROW foods
Host is the HLA genes
Cofactors is drugs, intestinal infections and infant feeding practices
- Introduction of dietary gluten while breastfeeding plus the introduction of small or medium amounts as opposed to large amounts of gluten. There is also thought that the timing of gluten introduction predisposes an individual to having coeliac disease.
- Intestinal infection leading to gluten antigen mimicry
What is the basic pathophysiology of coeliac disease?
Gluten peptides, after crossing the epithelium into the lamina propria, are deamidated by tissue transglutaminase and then presented by DQ2+ or DQ8+ antigen-presenting cells to pathogenic CD4+ T cells. Once activated, the CD4+ T cells drive a T-helper-cell type 1 response that leads to the development of coeliac lesions—namely intraepithelial and lamina propria infiltration of inflammatory cells, crypt hyperplasia, and villous atrophy #straightouttaareviewpaper
What is the typical clinical presentation of the child with coeliac disease? Then, name 3 GI symptoms and 3 non-GI symptoms.
Failure to thrive infant with poor appetite, irritability, muscle wasting/weight loss
GI symptoms: diarrhoea, anorexia, nausea, vomiting, oedema, anaemia, abdominal pain/discomfort, bloating.
Non-GI symptoms: IgA deficiency, iron deficiency anaemia, osteopenia/osteoporosis (Ca Deficiency), dermatitis herpetiformis, dental enamel hypoplasia, thyroid associated symptoms
There are three classifications of coeliac disease. Silent disease, minor and major coeliac disease. What is the presentation of a patient with minor coeliac disease?
Minor Coeliac Disease
Trivial, transient or apparently unrelated symptoms. dyspepsia, abdominal discomfort and bloating, mild or occasional altered bowels habit without malabsorption mimicking irritable bowel syndrome, unexplained anaemia, isolated fatigue, cryptic hypertransaminasaemia, infertility, peripheral and central neurologic disorders, osteoporosis, short stature, dental enamel defects, dermatitis herpetiformis
What is the presentation of a patient who has major coeliac disease?
Frank malabsorption symptoms – diarrhoea (nocturnal with incontinence), steatorrhoea (loose discoloured, greasy, frothy stools that are difficult to flush), weight loss, malnutrition symptoms, peripheral oedema, symptoms of other autoimmune diseases
What is required to make the diagnosis of coeliac disease?
Genetic Haplotyping
Given the predisposition of HLA DQ2/DQ8 for coeliac disease, it can categorically rule out patients without this genetic haplotype. It is not used to identify cases but more as a screening tool for relatives of confirmed cases of coeliac disease.
Serology
FBE + Blood Smear – can present with iron deficiency anaemia (low Hb, microcytic)
IgA-tTG – IgA for tissue transglutaminase
Endomysial Antibody – higher specificity but lower sensitivity
IgG DGP or IgA/IgG DGP (deaminated gluten peptide)– because IgA deficiency is suspected in coeliac patients this is sometimes used as an alternative
Note: advise parents not to begin the gluten free diet prior to the serology/diagnosis
Endoscopy + Biopsy/Histology
On endoscopy, atrophy and scalloping of mucosal folds; nodularity and mosaic pattern of mucosa.
On hisotology, presence of intraepithelial lymphocytes, villous atrophy and crypt hyperplasia
What is important to remember in the serological testing of children with potential coeliac disease in regards to their IgA level?
In children with coeliac disease there is an associated 10-16 fold increase in IgA deficiency. Since tTG is an IgA-detecting test, it is important to order an accompanying IgA level.
Do you need to repeat endoscopy in a patient that has be diagnosed with coeliac disease?
Apparently, you do not need to repeat endoscope and biopsy in established coeliac patients because the blood tests and serology correlate with the intestinal changes and can tell you about the progress of the disease. There is a high negative predictive value so if there isn’t much change then its ok but if there is change then you can made a clinical decision regarding the need to go through an invasive procedure. #gastroclinic4lyf
What is the management of a patient with coeliac disease?
Strict gluten free diet. This is the only proven therapy for coeliac disease.
What are the 3 main comorbidities associated with coeliac disease?
Osteoporosis
Bowel Cancer/enteropathy associated T-cell lymphoma
Autoimmune Disorders (thyroid disease, diabetes)
