- Celiac disease (CD) is a systemic immune-mediated disorder caused by a permanent sensitivity to gluten in genetically susceptible individuals.
- The collective term for specific alcohol-soluble proteins (called prolamines) that are found in wheat, rye, and barley
- “Classic CD”
- Refers to children who present predominately with malabsorptive symptoms including diarrhea, abdominal pain, vomiting, and abdominal distention in the setting of suboptimal growth and irritability
- The majority of children presenting with CD do not have classic symptoms. For example, the majority have constipation rather than diarrhea.
- “Silent CD”
- Defines a minority of people with CD who have no identifiable symptoms but have consistent intestinal mucosal lesions and elevated serum antibodies
- “Celiac crisis”
- A rare but serious manifestation of CD
- Consists of severe watery diarrhea, electrolyte disturbances, dehydration, hypotension, and lethargy
- “Potential CD”
- Patients with positive serologic testing but normal intestinal histology
- Some, but not all, of these “potential CD” patients develop CD over time on a gluten-containing diet
- CD is present in approximately 1% of the U.S. population, but only a small proportion have been diagnosed.
- Average age at diagnosis of pediatric CD in the United States is approximately 9 years old.
- Females are more affected than males.
- There is increased prevalence in patients with 1st-degree relatives with CD (10–15%).
- HLA-DQ2 and HLA-DQ8 haplotypes are “necessary but not sufficient” for CD.
- >90% of CD patients carry HLA-DQ2, 5% carry HLA-DQ8.
- High negative predictive value for negative DQ2/DQ8 testing
- Low positive predictive value (30% of general population in North America is HLA-DQ2 positive.)
- Numerous other genes have been identified as increasing CD susceptibility.
- A family or personal history of autoimmune disease is also associated with CD.
- In people with CD, ingestion of gluten leads to an enteropathy of the small intestine characterized by mucosal inflammation and villous atrophy.
- Generation of unique serologic autoantibodies and development of a diverse spectrum of signs and symptoms also occur.
- Elimination of gluten, via implementation of a strict gluten-free diet (GFD), leads to intestinal healing, normalization of elevated antibody levels, and resolution of related symptoms.
Commonly Associated Conditions
- Autoimmune thyroiditis
- Type 1 diabetes mellitus
- Sjögren syndrome
- Selective IgA deficiency
- Williams syndrome
- Down syndrome
- Turner syndrome
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