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Updated: Jul 1 2017

Celiac Disease

Snap Shot
  • A 43 year-old man from Ireland presents with complaints of diarrhea. He reports she has been having 3-5 loose stool per day for the last six months. The condition improves when he fasts.

Introduction
  • A chronic hereditary intestinal malabsorption disorder caused by intolerance to gluten
    • a cereal protein found in wheat and rye and less so in barley and oats
  • Gluten acts as an antigen and forms an immune complex in the intestinal mucosa
    • promoting aggregation of killer lymphocytes
    • lymphocytes cause mucosal damage with loss of villi and proliferation of crypt cells
  • The prevalence of celiac disease varies:
    • 1:300 in southwest Ireland
    • > 1:5000 in North America.
    • no single genetic marker exists
Presentation
  • Symptoms
    • asymptomatic
    • diarrhea
      • can lead to fat soluble vitamin deficiency 
    • iron-deficiency anemia
    • failure to thrive
    • growth retardation
    • weight loss
  • Physical exam
    • dermatitis herpetiformis
      • pruritic, red, papulovesicular lesion on shoulders, elbows, and knees
      • due to IgA deposits in the upper dermis
  • Symptoms are absent in children until they eat food containing gluten
    • failure to thrive
    • pass pale, malodorous, bulky stools
    • suffers painful abdominal bloating
    • repeat infection if IgA deficiency present (common in Celiac patients)
Evaluation
  • Diagnosed by biopsy showing a pathognomonic blunting of intestinal villi and flat mucosa with lymphocytic and plasma cell infiltration   
  • IgA Anti-tissue Transglutaminase Antibodies is the single best serologic test, with confirmation through duodenal biopsy. 
  • Anti-endomysial antibody (EMA) titers show high sensitivity and specificity
    • proposed as screening test for celiac disease
    • also IgG/IgA antigliadin antibodies
Treatment
  • Avoid dietary gluten 
  • Dietary supplements
  • Treat dermatitis herpetiformis with dapsone
Prognosis, Prevention, and Complications
  • Intestinal lymphoma
    • develops in 10-15%
Question
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