Celiac Disease
Autoimmune damage to the small intestine triggered by eating gluten, leading to malabsorption.
Emergency Management: Celiac crisis (rare) presenting with profuse diarrhea, severe dehydration, and severe electrolyte derangements requiring IV fluids and steroids.
An autoimmune-mediated systemic disorder triggered by the ingestion of dietary gluten in genetically susceptible individuals, resulting in small intestinal mucosal inflammation and villous atrophy.
Detailed Overview
Upon exposure to gliadin (a component of gluten), T-cells in the small intestine launch an immune response leading to crypt hyperplasia and villous blunting. This malabsorption syndrome causes diarrhea, weight loss, and nutritional deficiencies. It strictly requires the presence of HLA-DQ2 or HLA-DQ8. The only effective treatment is a lifelong, strict gluten-free diet.
Epidemiology & Demographics
Prevalence is roughly 1% of the population in North America and Europe. Female to male ratio is 2:1. Often diagnosed in early childhood or the 3rd-4th decade.
Etiological Mechanism
Autoimmune reaction to gliadin, catalyzed by tissue transglutaminase (tTG), in individuals carrying HLA-DQ2 or HLA-DQ8 haplotypes.
Primary Causes
Ingestion of gluten-containing grains: wheat, rye, and barley.
Gluten is digested into gliadin peptides which cross the intestinal epithelium. Tissue transglutaminase (tTG) deamidates gliadin, increasing its affinity for HLA-DQ2/DQ8 receptors on antigen-presenting cells. This activates CD4+ T-cells, releasing IFN-gamma and TNF-alpha, driving tissue inflammation. Intraepithelial CD8+ T-cells directly destroy enterocytes, leading to villous atrophy, crypt hyperplasia, and loss of absorptive surface area in the duodenum/jejunum.
Diagnostic Criteria & Guidelines
Positive celiac specific serology (IgA anti-tTG) while on a gluten-containing diet, confirmed by upper endoscopy with duodenal biopsies showing villous atrophy, crypt hyperplasia, and increased IELs.
Lifelong, strict Gluten-Free Diet (GFD). Complete avoidance of wheat, rye, and barley. Oats may be consumed if certified gluten-free. Supplementation with Iron, Calcium, Vitamin D, and Folate as needed until mucosa heals.
Second-Line & Adjunctive Therapy
For Refractory Celiac Disease (persistent atrophy despite strict GFD for 12 months): Budesonide 9 mg PO daily or systemic immunosuppression (Azathioprine).
Surgical & Procedural Management
None, unless complicated by EATL or small bowel adenocarcinoma requiring resection.
Patient Counseling & Advice
Stress that even trace amounts of gluten (e.g., using the same toaster) can trigger mucosal damage, even if asymptomatic.
Follow-Up & Monitoring Schedule
Repeat IgA tTG at 6 and 12 months (should normalize on GFD). Repeat duodenal biopsy in adults at 2 years to confirm mucosal healing.
Preventive Strategies
No primary prevention. Early screening in high-risk groups (Type 1 DM, Down syndrome) prevents complications.
Excellent with strict GFD adherence. Symptoms improve in weeks; mucosal healing takes 1-2 years.