Celiac Disease (Week 4 GI) Flashcards
What is celiac disease?
an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals
* Disease of the Small Intestine; jejunum Is major site
How to symptoms present in celiac disease?
occurs in symptomatic subjects with GI and non GI symptoms
* About 50% present Gi symptoms and 50% present with other symptoms
Occurs in some asymptomatic individuals
* screened because of risk factors
What are DQ2 and DQ8?
The HLA gene alleles that predispose a person to celiac disease
* DQ2 and/or DQ8 positive HLA haplotype is necessary but not sufficient → The majority of people who test positive for HLA-DQ2/DQ8 are at risk, but only 2% to 3% actually develop celiac disease
What is the environment trigger of celiac disease?
gluten
What is the autoantigen detected in celiac disease?
tissue transglutaminase
* The immune system mistakenly thinks that gluten — a protein in wheat, barley, rye, and oats — is a foreign invader.
What can result in complete resolution of celiac disease?
elimination of gluten
Diagnosis of Celiac disease
pathogensis of celiac disease
Presentation of modified gliadin peptide in context of HLA-DQ2 leads to activation of CD4 + T-cells (both circulate to attack foreign things)
* Also humeral response has a role
What is tTG and how does celiac disease affect it?
TTG is a normal gut enzyme that that is released during injury to fix damages but in celiac disease autoantibodies work againsts TTG correlating with active disease.
* tTG IgA antibody concentrations greater than 40 U/m correlate with celiac disease diagnosis
What are absorption pathophysiology complications of celiac disease?
- Malabsorption of nutrients, especially iron, folate, Ca and vitamin D
- Malabsorption of fat, fat soluble vitamins
- Increased intestinal permeability may permit entry of other antigenic stimuli which might induce autoimmune diseases
prevalence of celiac disease
- 1-3%, highly prevalent in South Asian, Sahara European Ancestry (pakistan probably highest)
- 1-2/100 in Canada
- 4-8/100 in Sweden
- ~8/100 in India
risk factors for celiac disease
- First degree relatives of celiac disease patients
- Type 1 DM
- Down syndrome
- Turner syndrome
- William syndrome
- Selective IgA deficiency
What are typical symptoms of celiac disease?
62% experience typical symptoms
* Abdominal pain
* diarrhea
* failure to thrive
Reason for screening in addition → 4%
What are atypical symptoms of celiac disease?
6% experience atypical symptoms
* Iron deficiency
* headache
* tremors
* fatigue (energy delivery malfunctions)
* constipation
* depression (mental health)
Reason for screening in addition - 22%
How many with celiac disease might experience no symptoms?
~34%
* A reason for screening only
What is asymptomatic celiac disease often referred to as?
The tip of the iceberg → Can be either silent or latent celiac disease
* Silent: no or minimal symptoms, damaged mucosa and positive serology
* Latent: no symptoms, normal mucosa and may show positive serology
Will develop later mucosal changes and/or symptoms