Celiac Disease Flashcards
What is celiac disease?
An auto-immune disease which results in the permanent sensitivity to gluten resulting in damage to intestinal mucosa
–> we dont necessarily know the trigger, and there is not cure
What is the genetic and autoimmune linkage of celiac disease?
- if 1 in 22 1st degree relatives, the risk goes up
- Major genes HLA-DQ2 and HLA-DQ8 in 95% of patients
- However having these genes doent necessarily mean that we will encounter the trigger which will cause CD, but the risk is there
What is the incidence of CD?
- Estimated 0.9% but no Canadian data
- 0.9% of Canadian children would be 16540
Prevalence of CD?
- Estimated at >1%
- About 330,000 Canadian
Who is at risk for celiac disease?
- 9-14% of those with symptomatic iron deficiency have CD
- 1-3% of those with osteoporosis evident have CD
Median age of diagnosis of CD in Canada?
40-49
–> However, diagnosis is done throughout the lifespan and depends on when the trigger was realized
What is the mean delay in diagnosis of CD?
11.7 years
Risk factors for CD?
- Dermatitis herpetiformis
- First-degree relative with CD
- Autoimmune thyroid disease
- Down syndrome
- T1DM
Which risk factors has a 100% prevalence of CD?
Dermatitis herpetiformis
When does an active state occur in CD?
-Occurs when the gluten from wheat, rye, malt and barley are eaten and is digested to yield alpha-gliadin. Causes the infiltration of WBC and production of IgA antibodies
What are the theories for the development of CD?
- Young age of introduction
- Short duration of breast-feeding
- Viral infections in infancy
What is the only treatment for CD?
A Gluten-free diet
How are many CD patients misdiagnosed?
With IBS or IBD
What is dermatitis herpetifomis?
- Found on 100% of those with CD
- The enzymes which our immune system become confused with with not only attack the GI tract, but will also attack the skin which results in the formation of the blister
Why autoimmune thyroid disease in CD?
-The same enzymes in the confused immune system that target the GI will also target the thyroid
Do people die from CD?
Yes, therefore we must intervene and therapy is important
(T/F) Gluten can trigger the development of CD (i.e. by triggering the pre-disposing gene)
F
Gluten will only trigger AFTER the CD is already established. Gluten will trigger and active diseased state
What may cause a false negative diagnosis of CD?
When they are deficient in IgA antibodies, but they still are CD
Key gluten containing foods?
- Wheat
- Rye
- Malt
- Barley
Discuss the pathophysiology of CD
- The gluten is broken down into gliadin protein
- The gliadin protein will become deaminated gliadin with the tissue transaminanse enzyme
- The deaminiated gliadin is picked up by the APC, which is presented to the naive-T cells in the payers patch and lymphnodes of the GI.
- This produces an inflammatory response, and there are killer T-cells now primed against the deaminated gliadin
- Cytokines are then released by WBC
Where is the IgA antibodies?
Found on the luminal mucosa of the GI tract, the “immune system” of the intestinal mucosa
Pathophysiological consequence of CD?
- Damage to villi, reduced height and flattened microvilli
- Decreased enzyme function and surface area
- Consequential maldigestion and malabsorptions
Which tissues have tissue transaminase?
-Thyroid
-Brain
-Pancreas
-Skin
Where the immune cells will also attack these tissues and will cause issues q
What is notable of the diarrhea in CD?
it originates in the small intestine, rather than within the bowel
What are the classical manifestation of Celiac Disease?
-Diarrhea, abdominal pain, cramping, bloating and gas
What are the “atypical” (but now more commonly acknowledged) clinical manifestations of CD?
- Bone and joint pain
- Muscle cramping and fatigue
- Peripheral neuropathy and seizures
- Skin rash
- Mouth ulcerations
- Higher risk of lymphoma and osteoporosis
–>Now more used regularly in the diagnosis
Common signs and symptoms of CD?
- Diarrhea
- Fatigue
- Borborygmus
- Abdominal Pain
- Weight loss
- Abdominal Distention
- Flatulence
Uncommon signs and symptoms of CD?
- Osteopenia and osteoporosis
- Abnormal liver function
- Iron-deficiency anemia
- Neurologic dysfunction
- Constipation
- Nausea
Up to___ of CD are asymptomatic
38%
Common sign and symptoms of celiac disease?
- Diarrhea
- Fatigue
- Borborygmus
- Abdominal pain
- Weight loss
- Abdominal distention
- Flatulence
Uncommon signs and symptoms of celiac disease?
- Osteopenia/osteoporosis
- Abnormal liver function
- Vomiting
- IDA
- Neurologic dysfunction
- Constipation
- Nausea
Up to ___ have non-classical symptoms
85%
What are the MOST common presenting symptoms?
- Abdominal pain
- Diarrhea
- Weight loss
What may be the reason for the mean delay in diagnosis?
- The mean delay in diagnosis is 11.7 years
- Not all symptoms follow the “classic” pattern, thus can delay diagnosis
What are common diagnoses made prior to celiac disease?
- Anemia
- Stress
- Irritable bowel syndrome
- Sometimes osteoporosis
How does CD often present clinically in children?
As PEM
- Leading to failure to thrive and issues with neurological deficiencies
- IDA in newborns is worse than IDA in utero
What is a clinical sign of iron deficiency?
Koilonychia or spoon shaped nails
What other clinical signs may be present in CVD?
- Finger clubbing
- Although cause is unclear
- Also associated with CF, Celiac disease, IBD and hepatic diseases
What is important to consider about symptoms and celiac disease?
Those with outward symptoms are fewer than those asymptomatic, or with less specific symptoms
- Often those with classical celiac disease are only 1:4500
- Those with atypical, silent or latent CD are 1:250
- Therefore screening is extremely important
In adults, which types of CD are the most problematic?
Silent and Latent, as if they go undetected and untreated may go on and develop cancer
What does the diagnosis of CD consist of? Why is the order of diagnosis important?
1) Physical exam and blood testing for the tTG antibodies
2) Duodenal biopsy
3) Implementation of the gluten-free diet
- -> Order is important, as if e start with the gluten-free diet other tests will simply come back negative
What is refractory CD?
- Due to a co-existing disease
- Does NOT respond to a gluten-free diet
What antibodies are tested for in CD?
- Gliadin antibodies
- IgA Endomysial antibodies
- IgA tTG antibodies