Diagnosis

Celiac disease

Etiology

Cause [mdq]

• Immunology:

  HLA-DQ2 and HLA-DQ8 on the surface of antigen-presenting cells in the lamina propria --> binding of gliadin --> proinflammatory cytokine interferon gamma --> activation of CD4+ T lymphocytes

Pathophysiology [mdq]

1. Ingestion of gliadin

2. Immunologically mediated inflammatory response

3. Damage of the intestinal mucosa

4. Maldigestion and malabsorption of food

5. Histology: Destruction of the absorptive surface of the intestine

Complication

• GI cancer (due to chronic inflammation)

Epidemiology

Incidence per 100.000 [vbb][pei][asr][swu][edr]

Prevalence per 100.000 [vbb][pei][asr][swu][edr]

Approach

Diagnostic criteria: positive celiac serology while on a gluten-containing diet [a8c]

• Serelogy: [a8c]

  • IgA anti-tissue transglutaminase antibody

  • Anti-deamidated gliadin-related peptide IgA and IgG

  • Endomysial antibody IgA

• Gastroscopy + biopsy

  • Absence of intestinal villi

  • Lengthening of intestinal crypts

  • Infiltration of lymphocytes in the epithelium

• Genetic testing:

  • Molecular genetic testing of HLA-DQA1 and HLA-DQB1

Treatment

1. Complete elimination of gluten-containing grain products (wheat, rye, and barley) [a8c]

2. Treatment of nutritional deficiencies:

   • Iron, zinc, calcium, fat-soluble vitamin D/B12, folic acid)

   • Calcium (Osteoporosis)

3. Persistent/recurrent symptoms affect up to 20% despite elimination of gluten:

   • Corticosteroids might be helpful [mdq]

   • Consider ulcerative enteritis, T-cell lymphoma, and other gastrointestinal cancer

Differential diagnoses

Amyloidosis, Anemia, Bacterial overgrowth syndrome, Crohn disease, Cytomegalovirus colitis, Dermatitis herpetiformis, Drug side effects, Eosinophilic gastroenteritis, Gastritis, Gastroenteritis, Gastrointestinal lymphoma, Giardiasis, Hypocalcemia, Hypokalemia, Hypomagnesemia, Hypothyroidism, Immunoglobulin A deficiency, Irritable bowel syndrome, Lactose intolerance, Lymphocytic colitis, Malabsorption, Menetriers disease, Myasthenia gravis, NSAID enteropathy, Peripheral neuropathy, Protein-losing enteropathy, Pseudomembranous colitis, Short bowel syndrome, Tropical sprue, Ulcerative colitis