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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
  • 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
  • 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)
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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(M2.GI.16.3) A 21-year-old woman presents to her obstetrician because she has stopped getting her period, after being irregular for the last 3 months. Upon further questioning, the patient reveals that she has had a 17 lb unintended weight loss, chronic diarrhea, abdominal pain, and constipation that waxes and wanes. Family history is notable only for an older brother with type 1 diabetes. She is healthy and is eager to gain back some weight. Her gynecologist refers her to a gastroenterologist, but first sends serology laboratory studies for IgA anti-tissue transglutaminase antibodies (IgA-tTG). These results come back positive at > 10x the upper limit of normal. Which of the following is the gastroenterologist likely to find on endoscopy and duodenal biopsy?

QID: 104545
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Foamy macrophages, which stain PAS positive

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Cobblestoning with biopsy showing transmural inflammation and noncaseating granulomas

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Friable mucosal pseudopolyps with biopsy notable for crypt abscesses

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Normal appearing villi and biopsy

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Villous atrophy with crypt lengthening and intraepithelial lymphocytes

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M 6 D

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(M3.GI.15.4) A 29-year-old woman presents to her gastroenterologist with complaints of fatigue and frequent diarrhea over the last 6 months. The diarrhea resolves when the patient fasts. She has lost 10 pounds over this time frame. She has eliminated dairy from her diet with no change in her symptoms. Her temperature is 97.6°F (36.4°C), blood pressure is 118/77 mmHg, pulse is 70/min, respirations are 15/min, and oxygen saturation is 98% on room air. Physical exam is notable for a thin woman. A rectal exam and a fecal occult blood test are within normal limits. Physical exam is notable for the finding in Figure A. Which of the following would be found in this patient on confirmatory testing?

QID: 102603
FIGURES:
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Crypt abscesses in the colon

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Graulomatous inflammation of the colon

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Lymphocytic infiltration of the gastric mucosa

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Mucosal flattening and blunting of villi

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Normal appearing intestinal mucosa

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M 10 E

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Evidence (8)
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