Overview
Definition
An immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals.
Epidemiology
Affects ~1% of the population. Associated with HLA-DQ2 and HLA-DQ8.
Etiology & Risk Factors
- Autoimmune reaction to gliadin (a component of gluten found in wheat, barley, and rye)
- Tissue transglutaminase (tTG) modifies gliadin, causing T-cells to attack the small intestine mucosa (specifically the duodenum).
Clinical Symptoms
- Chronic diarrhea, steatorrhea (foul-smelling, fatty stools)
- Weight loss and failure to thrive (in children)
- Flatulence, bloating, abdominal pain
- Dermatitis Herpetiformis (pruritic, vesicular rash on extensor surfaces - knees, elbows, buttocks)
- Anemia (Iron, B12, or Folate deficiency)
Clinical Approach
Diagnosis
- Serology: IgA anti-tissue transglutaminase (tTG) antibodies (highly sensitive/specific). MUST check total IgA levels as IgA deficiency is common in Celiac (would cause a false negative tTG)
- Endoscopy with Duodenal Biopsy (Gold Standard): Villous atrophy, crypt hyperplasia, intraepithelial lymphocytosis
- Note: Testing MUST be done while the patient is still consuming gluten
Management
- Strict, lifelong adherence to a gluten-free diet (avoid wheat, barley, rye)
- Oats are generally safe but may be cross-contaminated
- Vitamin and mineral supplementation (Iron, Calcium, Vitamin D, B12)
Complications
- Osteoporosis (due to calcium/Vitamin D malabsorption)
- Enteropathy-associated T-cell lymphoma (EATL)
- Increased risk of other autoimmune diseases (Type 1 Diabetes, Autoimmune Thyroiditis)