Celiac Disease Flashcards
(23 cards)
What is Celiac disease?
an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals
Time Of Presentation
within a few months to years of starting a diet that contains gluten.
So one can’t get celiac disease before age of 4 months.
Most common age of presentation is 6 – 24 months.
Sources of Gluten
wheat, rye, and barley/playdough/lipstick
Pathogenesis:
1) Ingestion of these proteins by susceptible individuals causes immune-mediated mucosal inflammation of the proximal small intestine, with villous atrophy and crypt hyperplasia.
2) The immune response is mediated by gliadin-reactive T cells, IL-15.
Risk factors:
1) Genetic factors
2) Autoimmunity
3) Feeding practices in infancy and early childhood
4) Additional trigger factors
Genetic factors
More than 99 percent of individuals with celiac disease have HLA DR3-DQ2 and/or DR4-DQ8
Homo-zygotes for DR3-DQ2 are at the highest risk for celiac disease
Autoimmunity
- Celiac disease is associated with a number of autoimmune disorders, including type 1 diabetes mellitus and autoimmune thyroid disease
- IgA-antibodies against endomysium and the endomysial autoantigen tissue transglutaminase (tTG) are highly sensitive and specific
Feeding practices in infancy and early childhood
Timing of gluten introduction
Quantity of gluten exposure
Cow’s milk protein
Additional trigger factors
Prior intestinal infections, and, in particular, infection with rotavirus or enterovirus
High-risk groups
●First- and second-degree relatives of patients with celiac disease
●Down syndrome
●Type 1 diabetes
●Selective immunoglobulin A (IgA) deficiency
●Autoimmune thyroiditis
●Turner syndrome
●Williams syndrome
●Juvenile chronic arthritis
Clinical Manifestations
- Gastrointestinal (“classical”)
- Non-gastrointestinal ( “atypical”)
- Asymptomatic
Gastrointestinal Manifestations
• Chronic or recurrent diarrhea • Abdominal distension • Anorexia • Failure to thrive or weight loss • Abdominal pain • Vomiting • Constipation • Irritability Rarely: Celiac crisis
Gastrointestinal Manifestations (“Classic”) Most common age of presentation
6-24 months
Most common age of presentation for Non Gastrointestinal Manifestations
older child to adult
Non Gastrointestinal Manifestations
- Dermatitis Herpetiformis
- Dental enamel hypoplasia of permanent teeth
- Osteopenia /Osteoporosis
- Short Stature
- Delayed Puberty
- Iron-deficient anemia resistant to oral Fe
- Hepatitis
- Arthritis
- Epilepsy with occipital calcifications
Diagnosis Serology:
•Anti-gliadin antibodies AGA (IgA and IgG) have poor
sensitivity and specificity.
•Anti-tissue transglutaminase antibody (tTG) and/or antiendomysial
antibody (EMA); very high sensitivity and specificity,
except in patients with IgA deficiency
•HLA typing
Diagnosis Endoscopy:
may show scalloping/ nodularity or it may me normal
Diagnosis Biopsy:
the gold standard.
- Villous atrophy: blunting/shortening of the villi.
- Infiltrative → hyperplastic (hyperplasia of the crypts) → flat destructive.
- Intraepithelial lymphocytes ↑ in number.
Treatment
- Adherence to a strict gluten-free diet results in resolution of symptoms and histologic abnormalities and is the recommended treatment
- Consultation with an experienced dietician is often beneficial to the family
- You have to screen siblings
Asymptomatic Silent
No or minimal symptoms, “damaged” mucosa and
positive serology
Asymptomatic Latent:
- No symptoms, normal mucosa
- May show positive serology
- These individuals, given the “right” circumstances, will develop at some point in time mucosal changes (± symptoms) e.g DM pts
Bone Disease in Celiac Disease
- Arthritis
- Osteoporosis
- Osteopenia
- Osteomalacia
- Rickets
Lactose Intolerance & Celiac Disease: Incidence
- Secondary lactase deficiency is estimated to be 20-40%
- Increasing lactose Intolerance with delayed diagnosis
- Increased incidence in patients with GI symptoms in Celiac Disease
- Decrease calcium and vitamin D intake in lactose intolerance
