Celiac Disease (Week 4 GI) Flashcards
(42 cards)
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
What GI manifestations might occur with celiac disease?
- Chronic or recurrent diarrhea
- Abdominal distension
- Anorexia
- FTT or weight loss
- Abdominal pain
- Vomiting
- Constipation
- Irritability (mental health)
- poor microbiome
What is the most common non-GI manifestation?
iron deficiency anemia (3-5%)
* higher in children with newly diagnosed celiac disease anemia is common
Aside from iron, what are other non-GI symptoms?
- Hepatitis (liver disease - uncommon)
- Arthritis
- Epilepsy with occipital calcifications
- Poor Bone Health and in adults ↑ risk for fracture (no evidence in children)
- Mental Health: brain fog
- Poor dentition (from GERD)
What is a physical sign for celiac disease?
dental enamel defect
* Involve the secondary dentition
* Could be the only presenting sign of celiac disease - sometimes how kids are diagnosed
* may be from experiencing GERD
How does celiac disease disrupt growth in children/ teens?
short stature and delayed puberty:
* About 10% of short children and teens have evidence of celiac disease
* Delayed menarche
* Higher prevalence in teens with untreated celiac disease
* signs of osteopenia
* poor bone development (not symptom dependent)
What should healthy bone be composed of, and how should it grow?
- New born skeleton has 25 grams of calcium → Adult skeleton has 1200 grams of calcium
- Increase bone mass 30 x during childhood → Further 50% accrual of that to date during adolescence
What is the importance of early diagnosis?
- Improved quality (and length) of life
- Improved growth
- Improved learning ability
- Decreased risk of other auto-immune disorders
- Early diagnosis – in childhood – may decrease the risk of complications
- Osteoporosis
- Early diagnosis – in childhood – may increase adherence with a gluten free diet
How is celiac disease managed?
Gluten free diet (GFD) remains best treatment
* Controversies over analytical methods to measure and define gluten content → <20ppm can be labelled gluten free
* Commercial recognition “value” of gluten free products
* How much can I cheat?
* The GFD has several nutritional limitations