Gastroenterology Book

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Gluten EnteropathyAka: Gluten Sensitive Enteropathy, Celiac Sprue, Celiac Disease, Coeliac Disease

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  1. Epidemiology
    1. Affects both adults and children
    2. May present as Failure to Thrive in infants
    3. Elderly over age 60 years represent 20% of cases
    4. Prevalence: 1 per 120-300 in United States and Europe
    5. Occurs in 10-20% if positive first degree relative
    6. More common in women (75% of adult cases)
    7. Family History increases risk
      1. First degree relatives: 5% have Celiac Disease
      2. Second degree relatives: 2% have Celiac Disease
  2. Pathophysiology
    1. Small bowel exposure to antigens in cereal grains
    2. Immunologic disorder of small bowel
      1. Abnormal T Cell and IgA and IgG antibody response
      2. Enhanced immunogenic response to a-gliadin
      3. Results in intense local inflammation at villous
      4. Significantly decreases absorptive surface
    3. Related to HLA Class II DQA1*0501 and DQB1*0201
      1. Associated with other Autoimmune Conditions as below
  3. Associated conditions: Autoimmune
    1. Type I Diabetes Mellitus (7% comorbidity)
    2. Autoimmune Thyroid disease
    3. Sjogren's Syndrome
    4. Primary biliary Cirrhosis
    5. Addison's Disease
    6. Systemic Lupus Erythematosus
    7. Selective IgA Deficiency
    8. Alopecia Areata
    9. Autoimmune Hepatitis
    10. Sarcoidosis
    11. Vitiligo
    12. Psoriasis
  4. Symptoms (secondary to malabsorption)
    1. Many cases are asymptomatic
    2. Abdominal Distention
    3. Excessive flatus or Eructation
    4. Large, bulky, foul smelling stools
    5. Diarrhea
    6. Weight loss
    7. Fatigue
    8. Weakness
  5. Signs: Age-related Presentations
    1. Gastrointestinal symptoms as described below
    2. Infants
      1. Failure to Thrive or short stature
      2. Developmental delay
      3. Malnutrition
    3. Older children
      1. Constitutional Short Stature
      2. Dental enamel defect
      3. Epilepsy
    4. Adults
      1. Osteopenia
      2. Lactose Intolerance
      3. Anemia
  6. Signs: General
    1. Anemia (50% of cases)
      1. Occult blood loss from small bowel inflammation
      2. Malabsorption
        1. Iron Deficiency Anemia (most common)
        2. Vitamin B12 Deficiency
        3. Folate Deficiency
    2. Other vitamin malabsorption
      1. Osteoporosis (Vitamin D Deficiency)
      2. Coagulopathy (Vitamin K deficiency)
    3. Dermatitis Herpetiformis (10% of cases)
  7. Diagnosis: Serologic testing
    1. Indications for testing
      1. Celiac Disease in first or second degree relatives
      2. Thyroid disease
      3. Type I Diabetes Mellitus
      4. Down Syndrome
      5. Infertility
    2. Other Indications for testing
      1. Irritable Bowel Syndrome
      2. Iron Deficiency Anemia
      3. Chronic Diarrhea
      4. Chronic Fatigue
      5. Unintentional Weight Loss
      6. Short stature
      7. Liver Function Test abnormalities (AST or ALT)
    3. Antibody testing
      1. Anti-tissue transglutaminase antibody (TTG)
        1. Most sensitive test for Celiac Sprue
        2. May be combined with EMA
        3. Test Sensitivity: 95%
        4. Test Specificity: 90%
        5. Obtain IgG and IgA levels
          1. If IgA tested only, check total IgA
      2. IgA anti-endomysial antibody (EMA)
        1. Test Sensitivity: 85-100%
        2. Test Specificity: 96-100%
        3. False negative in IgA deficient, age under 3 years
        4. May be used in combination with TTG
      3. Gliadin antibodies (not recommended, low sensitivity)
        1. IgA anti-gliadin antibody
          1. Test Sensitivity: 53-100%
          2. Test Specificity: 65-100%
        2. IgG anti-gliadin antibody
          1. Test Sensitivity: 57-100%
          2. Test Specificity: 42-98%
      4. Protocol
        1. Start with TTG and EMA
          1. Anti-tissue transglutaminase antibody (TTG)
          2. IgA anti-endomysial antibody (EMA)
        2. Interpretation
          1. All tests negative: Celiac Sprue is unlikely
          2. One or both of IgA tests positive
            1. Highly suggestive of Celiac Sprue
            2. Correlates with extensive villous atrophy
          3. IgG positive with IgA negative
            1. Obtain total quantitative IgA
            2. Consult with Gastroenterology to consider:
              1. IgA deficient: Endoscopy with biopsy
              2. IgA normal: Gluten challenge and endoscopy
  8. Diagnosis: Endoscopy with small bowel biopsy
    1. Indications
      1. IgA deficiency (serology unreliable)
      2. Confirmation of Celiac Sprue diagnosis
    2. Endoscopic biopsy of distal duodenum (gold standard)
      1. Villous atrophy with reactive crypt hyperplasia
  9. Labs (at time of initial diagnosis)
    1. Complete Blood Count with platelets
    2. Iron studies (Serum Iron, TIBC, Ferritin)
    3. Serum Vitamin B12
    4. Serum Folate
    5. Calcium
    6. Phosphate
    7. Renal Function tests (Blood Urea Nitrogen, Creatinine)
    8. Liver Function Tests (AST, ALT, Albumin, Alk Phos)
  10. Radiology (at time of diagnosis and as warranted)
    1. DEXA Scan of spine and hips
  11. Management
    1. Strict Gluten-Free Diet
  12. Complications
    1. Osteoporosis (from calcium and Vitamin D malabsorption)
    2. Neurologic disorders
      1. Cerebral calcifications
      2. Ataxia
      3. Peripheral Neuropathy
      4. Seizure disorder
    3. Untreated or refractory Celiac Sprue complications
      1. Intestinal stricture (and Bowel Obstruction)
      2. Small intestinal cancers (relative risk: 10)
        1. T-Cell Lymphoma
        2. Cryptic Lymphoma should be considered if refractory
      3. Oropharyngeal cancers (relative risk: 2.3)
      4. Esophageal Cancers (relative risk: 4.2)
      5. Right-sided bowel adenocarcinoma (relative risk: 2.3)
      6. Primary liver cancer (relative risk: 2.7)
  13. Course: Following gluten free diet started
    1. Clinical improvement in several days
    2. Restoration of normal histology in weeks to months
    3. Diarrhea recurrence despite Gluten-Free Diet causes
      1. Gluten returned to diet (most common)
      2. Lactose Intolerance
      3. Microscopic colitis
      4. Pancreatic insufficiency
      5. Irritable Bowel Syndrome
      6. Refractory Celiac Sprue
      7. Small intestinal cancer (T-Cell Lymphoma)
  14. Resources
    1. Celiac Sprue Association
      1. http://www.csaceliacs.org
      2. PO Box 31700 Omaha, Nebraska 68131,Tel: 402/558-0600
    2. Celiac Disease and Gluten-Free Diet Support Page
      1. http://www.celiac.com
    3. Celiac Disease resources for providers
      1. http://www.uams.edu/celiac
  15. References
    1. Ciclitira (2001) Gastroenterology 120:1526
    2. Farrell (2002) N Engl J Med 346:180
    3. Nelsen (2002) Am Fam Physician 66(12):2259

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