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Updated: Dec 15 2021

Celiac Disease

  • Snapshot
    • A 43-year-old man from Ireland presents to the clinic with complaints of diarrhea. He reports she has been having 3-5 nonbloody, loose stools per day for the last 6 months and improves when he fasts. He denies hematochezia, melena, weight loss, or family history of colon cancer. A physical examination demonstrates blistering skin lesions at the extensor surfaces of the elbow bilaterally.
  • Introduction
    • Clinical definition
      • chronic autoimmune disorder triggered by an environmental agent (gliadin component of gluten) in genetically predisposed individuals
        • often found in wheat and other grains such as barley and rye
      • often develops in childhood but may develop at any age
    • Genetics
      • no single genetic marker exists
      • majority of patients have the variant HLA-DQ2 or HLA-DQ8 allele
        • these predisposing HLA risk alleles are necessary but not sufficient to develop celiac disease
    • Associated conditions
      • other autoimmune diseases (e.g., diabetes mellitus type 1)
  • Epidemiology
    • Demographics
      • occurs primarily in whites of northern European ancestry
      • > 1:5000 in North America
    • Pathogenesis
      • upon exposure to gluten, an abnormal immune response leads to the production of several different autoantibodies that affects different organs
        • leads to the formation of an immune complex in the intestinal mucosa (primarily at the small intestine)
      • presence of the immune complex promotes the aggregation of killer lymphocytes, which cause mucosal damage
        • leads to the loss of villi lining (villous atrophy) and proliferation of crypt cells
      • damage of the villi lining leads to dysfunction in nutrient absorption, leading to malabsorption and anemia
  • Presentation
    • Symptoms
      • steatorrhea
        • can lead to fat soluble vitamin deficiencies
      • abdominal pain
      • bloating
      • flatulence
      • weight loss/failure to gain weight
      • fatigue
      • some patients are asymptomatic
      • repeated infections (if IgA deficient, common in celiac patients)
        • anaphylaxis if transfused by IgA containing blood products
    • Physical exam
      • abdominal distension
      • pallor
      • mouth ulcers
      • short stature
      • dermatitis herpetiformis
        • pruritic, red, papulo-vesicular lesion commonly on shoulders, elbows, and knees
        • due to IgA deposits (anti-epidermal transglutaminase) in the upper dermis
  • Studies
    • Diagnostic testing
      • diagnostic approach
        • diagnosis is based on clinical symptoms and confirmed with small bowel biopsy
      • studies
        • serological blood tests
          • best initial test
            • anti-tissue transglutaminase (tTg)-IgA antibody
          • anti-endomysial-IgA antibody
            • tests for IgA antibodies, will be negative in those with IgA deficiency
              • for patients with IgA deficiency, deamidated gliadin peptide (DGP) IgG testing is available
          • positive serology requires small bowel biopsy for confirmation of diagnosis
        • upper endoscopy with small bowel biopsy
          • best confirmatory test
          • at least 4 duodenal biopsies are recommended
          • endoscopic features including loss of folds, visible fissures, nodularity, scalloping, and prominent submucosal vascularity
          • histologic features include
            • increased intraepithelial lymphocytes and plasma cells
            • atrophic mucosa with loss of villi
            • enhanced epithelial apoptosis
            • crypt hyperplasia
        • HLA testing
          • only useful in ruling out celiac disease
        • laboratory studies
          • CBC, iron studies, folic acid, vitamin B12 to evaluate level of malnutrition/malabsorption
        • dual energy X-ray absorptiometry (DEXA)
          • to identify risk of fracture and need for bone protection medication
  • Differential
    • Inflammatory bowel disease
      • distinguishing factors
        • different histological appearance on biopsy
    • Irritable bowel syndrome
      • distinguishing factors
        • will have negative biopsy results
  • Treatment
    • First-line
      • gluten-free diet
        • allows healing of the intestinal mucosa and resolution of all symptoms
        • eliminates the heighted risk of osteoporosis and intestinal cancer
      • dietary supplements
    • Second-line
      • steroids or immunosuppressant (e.g., azathioprine)
        • consider in patients with refractory disease
  • Complications
    • Iron deficiency anemia
    • Osteoporosis
    • Infertility
    • Neurological problems (secondary to malabsorption)
    • Intestinal lymphoma
      • develops in 10-15% of patients
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