Gastroenterology Book

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Gluten Enteropathy

Aka: Gluten Enteropathy, 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. Older patients over age 60 years represent 20% of cases
    4. Prevalence: 1 per 120-300 in United States and Europe (0.5 to 1%)
    5. More common in women (75% of adult cases)
    6. Family History increases risk
      1. Monozygotic twins: 75% concordance rate
      2. First degree relatives: 5-20% have Celiac Disease
      3. Second degree relatives: 2% have Celiac Disease
  2. Pathophysiology
    1. Small Bowel exposure to antigens in cereal grains (rye, wheat, barley)
    2. Immunologic disorder of Small Bowel
      1. Abnormal T Cell and IgA and IgG Antibody response
      2. Enhanced immunogenic response to a-gliadin at lamina propria
      3. Results in intense local inflammation at villous resulting in villous atrophy
      4. Significantly decreases absorptive surface
    3. Related to HLA Class II DQA1*0501 and DQB1*0201 (HLA-DQ2 and HLA-DQ8)
      1. Associated with other Autoimmune Conditions as below
  3. Associated conditions
    1. Chromosomal abnormality
      1. Turner's Syndrome
      2. Down Syndrome
    2. Autoimmune Conditions
      1. Type I Diabetes Mellitus (2-8% comorbidity)
      2. Autoimmune Thyroid disease (<14% comorbidity)
      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 (up to 38%)
    2. Diarrhea (up to 85%)
    3. Fatigue (80%)
    4. Weight loss (45%)
    5. Abdominal Distention (33%)
    6. Excessive flatus or Eructation (28%)
    7. Large, bulky, foul smelling stools
  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 (10-20% of cases)
      1. Pathognomonic for Celiac Disease
  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 or Turner's 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. Osteoporosis
      8. 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 (If IgA tested only, check total IgA)
      2. IgA anti-endomysial Antibody (EMA)
        1. Test Sensitivity: >85
        2. Test Specificity: >96
        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
          2. Test Specificity: >65
        2. IgG anti-gliadin Antibody
          1. Test Sensitivity: >57
          2. Test Specificity: >42
      4. Protocol
        1. Start with TTG with a reflex if positive to EMA
          1. Initial: Anti-tissue transglutaminase Antibody (TTG)
          2. Reflex: IgA anti-endomysial Antibody (EMA) if TTG is positive
        2. Interpretation
          1. All tests negative: Celiac Sprue is unlikely
            1. Test Sensitivity is dependent on mucosal inflammation
            2. Risk of false negative tests in subclinical disease and in IgA deficiency
          2. One or both of IgA tests positive
            1. Highly suggestive of Celiac Sprue
            2. Correlates with extensive villous atrophy
            3. Confirm with Small Bowel biopsy (due to false positives)
          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
    4. References
      1. Lewis (2006) Aliment Pharmacol Ther 24:47-54
  8. Diagnosis: Endoscopy with Small Bowel biopsy
    1. Indications
      1. IgA deficiency (serology unreliable)
      2. Confirmation of Celiac Sprue diagnosis
      3. High level of suspicion yet negative serologic testing
    2. Endoscopic biopsy of distal duodenum (gold standard)
      1. Villous atrophy with reactive crypt hyperplasia
      2. Four tissue samples are recommended to reduce false negative rate
  9. Differential Diagnosis
    1. Anorexia Nervosa
    2. Inflammatory Bowel Disease (e.g. Crohn's Disease)
    3. Intestinal infection (e.g. Giardiasis, Clostridium difficile, Tropical Sprue)
    4. Malabsorption (e.g. Lactose Intolerance)
    5. Mesenteric Ischemia
    6. Tuberculosis
    7. Intestinal Lymphoma
    8. Immunodeficiency (e.g. Human Immunodeficiency Virus, Hypogammaglobulinemia)
    9. Whipple's Disease
    10. Zollinger-Ellison Syndrome
    11. Irritable Bowel Syndrome
      1. Initial misdiagnosis in 36% of patients ultimately diagnosed with Celiac Disease
  10. Labs: Initial 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)
  11. Imaging (at time of diagnosis and as warranted)
    1. DEXA Scan of spine and hips
  12. Management
    1. Strict Gluten-Free Diet
    2. Consider monitoring with serologic markers (TTG or EMA as described above)
      1. Should return to normal within 3-12 months of starting Gluten-Free Diet
      2. Persistent positive markers suggests continue gluten exposure
  13. 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. Non-Hodgkin's Lymphoma (relative risk: 3 to 6)
      3. Small intestinal cancers (relative risk: 10)
        1. T-Cell Lymphoma
        2. Cryptic Lymphoma should be considered if refractory
      4. Oropharyngeal cancers (relative risk: 2.3)
      5. Esophageal Cancers (relative risk: 4.2)
      6. Right-sided bowel adenocarcinoma (relative risk: 2.3)
      7. Primary liver cancer (relative risk: 2.7)
  14. 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)
  15. 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 Foundation
      1. http://www.celiac.org
    4. Celiac Disease resources for providers
      1. http://www.uams.edu/celiac
  16. References
    1. Ciclitira (2001) Gastroenterology 120:1526-40
    2. Dewar (2005) Gastroenterology 128: S19-S24
    3. Farrell (2002) N Engl J Med 346:180-8
    4. Nelsen (2002) Am Fam Physician 66(12):2259-66
    5. Presutti (2007) Am Fam Physician 76(12): 1795-1810
    6. Treem (2004) Curr Opin Pediatr 16:552-559

Celiac Disease (C0007570)

Definition (MSH) A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
Definition (MEDLINEPLUS)

If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein in wheat, rye and barley. It is found mainly in foods but may also be in other products like medicines, vitamins and even the glue on stamps and envelopes.

Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms.

Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Definition (NCI) A digestive disease that is caused by an immune response to a protein called gluten, which is found in wheat, rye, barley, and oats. Celiac disease damages the lining of the small intestine and interferes with the absorption of nutrients from food. A person with celiac disease may become malnourished no matter how much food is consumed.
Definition (CSP) disease occurring in children and adults characterized by sensitivity to gluten, with chronic inflammation and atrophy of the mucosa of the upper small intestine; manifestations include diarrhea, malabsorption, steatorrhea, and nutritional and vitamin deficiencies.
Concepts Disease or Syndrome (T047)
MSH D002446
ICD9 579.0
ICD10 K90.0
SnomedCT 266478000, 155842007, 197481005, 396331005, 45259000, 275404008, 23829007, 197477005
English Celiac Disease, Enteropathies, Gluten, Gluten Enteropathies, Gluten Enteropathy, NONTROPICAL SPRUE, Disease, Celiac, ENTEROPATHY, GLUTEN, Enteropathy, Gluten, GEE-HERTER DISEASE, GLUTEN ENTEROPATHY, GLUTEN INTOLERANCE, HEUBNER-HERTER DISEASE, Huebner-Herter disease, SPRUE, NONTROPICAL, Celiac disease NOS, Coeliac disease NOS, GSE - Gluten-sens enteropathy, Gluten-induced enteropathy, Gluten-induced enteropathy syn, Celiac Sprue, Gluten-Induced Enteropathy, Non Tropical Sprue, CELIAC DISEASE, CD, CELIAC SPRUE, GLUTEN-SENSITIVE ENTEROPATHY, GSE, CELIAC DIS, celiac sprue, idiopathic steatorrhea, celiac idiopathic steatorrhea (diagnosis), gluten enteropathy, celiac rickets, celiac idiopathic steatorrhea, gluten enteropathy (diagnosis), celiac rickets (diagnosis), Coeliac disease (disorder), nontropical sprue, celiac disease (diagnosis), celiac disease, Gluten sensitive enteropathy, Gluten intolerance, Celiac disease NOS (disorder), Celiac Disease [Disease/Finding], gluten-induced enteropathy, non tropical sprue, celiac diseases, sprue, Disease;coeliac, Intolerance;gluten, non-tropical sprue, celiac syndrome, coeliac syndrome, celiac sprues, gluten-sensitive enteropathy, sprues, Nontropical Sprue, Gluten Intolerance, Enteropathy, Gluten-Sensitive, Gluten Sensitive Enteropathy, Gluten-Sensitive Enteropathies, Sprue, Celiac, Sprue, Nontropical, Gluten-Sensitive Enteropathy, Enteropathies, Gluten-Sensitive, Gluten-induced enteropathy syndrome, Non-tropical sprue, Sprue, Celiac disease, Gee-Herter disease, Celiac rickets, Celiac sprue, Gluten enteropathy, Idiopathic steatorrhea, Nontropical sprue, Wheat-sensitive enteropathy, Celiac syndrome, Coeliac disease, Coeliac sprue, Coeliac syndrome, GSE - Gluten-sensitive enteropathy, Gluten-responsive sprue, Gluten-sensitive enteropathy, Idiopathic steatorrhoea, Coeliac rickets, CS - Celiac sprue, CS - Coeliac sprue, CD - Celiac disease, CD - Coeliac disease, Celiac disease (disorder), Celiac rickets (disorder), Gee, Herter-Gee, Heubner-Herter, celiac; rickets, celiac, Thaysen, enteropathy; gluten-sensitive, gluten-sensitive; enteropathy, idiopathic; steatorrhea, nontropical; sprue, rickets; celiac, sprue; nontropical, steatorrhea; idiopathic, Gee - Herter disease, Coeliac disease [Ambiguous], Sprue - nontropical, Steatorrhea - idiopathic, Steatorrhoea - idiopathic, Gee disease, coeliac disease, Disease;celiac, gluten intolerance
Dutch niet-tropische spruw, glutengevoelige enteropathie, glutenenteropathie, glutenintolerantie, coeliakie; rachitis, enteropathie; glutensensitief, glutensensitief; enteropathie, idiopathisch; steatorroe, niet-tropisch; spruw, rachitis; bij coeliakie, spruw; niet-tropisch, steatorroe; idiopathisch, coeliakie, Coeliakie, Gluten-enteropathie, Spruw, glutengevoelige, Spruw, niet-tropische
French Entéropathie par sensibilité au gluten, Intolérance au gluten, Sprue non tropicale, Maladie céliaque, Maladie coeliaque, Entéropathie au gluten, Entéropathie chronique liée à une intolérance au gluten, Maladie de Gee, Sprue coeliaque, Sprue nostras, Sprue, Syndrome caeliaque par intolérance au gluten
German glutenempfindliche Enteropathie, Glutenunvertraeglichkeit, nichttropischer Sprue, einheimische Sprue, Zoeliakie, Enteropathie, Gluten-sensitive, Gluten-sensitive Enteropathie, Glutenenteropathie, Zöliakie
Italian Intolleranza al glutine, Malattia celiaca, Enteropatia da glutine, Celiachia, Sprue non tropicale, Enteropatia glutine-sensibile, Sprue celiaca, Morbo celiaco
Portuguese Espru celíaco, Enteropatia de intolerância ao glúten, Intolerância ao glúten, Espru não tropical, Doença celíaca, Doença Celíaca, Enteropatia Glúten Induzida, Espru Celíaco, Espru não Tropical, Estearréia
Spanish Enteropatía por gluten, Esprue no tropical, Sprue celiaco, Esprue celiaco, Intolerancia al gluten, Enteropatía sensible al gluten, Gluten enteropathy, Sprue - nontropical, Steatorrhea - idiopathic, Coeliac rickets, Steatorrhoea - idiopathic, Celiac disease, Idiopathic steatorrhea, Gee - Herter disease, Coeliac disease, Non-tropical sprue, Celiac rickets, Coeliac disease [Ambiguous], Idiopathic steatorrhoea, celíaco de esprue, crisis celíaca, enfermedad celíaca (trastorno), enfermedad celíaca, SAI (trastorno), enfermedad celíaca, SAI, enfermedad celíaca, enfermedad de Gee - Herter, enteropatía por gluten, enteropatía sensible a los cereales, esprue celíaco, esprue no tropical, esteatorrea idiopática, raquitismo celíaco (trastorno), raquitismo celíaco, Enfermedad celiaca, Enfermedad Celíaca, Enteropatía por Gluten, Esprue Celíaco, Esprue no Tropical, Enfermedad Celiaca, Enteropatia por Gluten, Esprue Celiaco
Japanese グルテン不耐症, 非熱帯性スプルー, グルテン過敏性腸症, ｸﾞﾙﾃﾝﾌﾀｲｼｮｳ, ｾﾘｱｯｸｽﾌﾟﾙｰ, ｸﾞﾙﾃﾝﾁｮｳｼｮｳ, ﾋﾈｯﾀｲｾｲｽﾌﾟﾙｰ, ｾﾘｱｯｸﾋﾞｮｳ, ｸﾞﾙﾃﾝｶﾋﾞﾝｾｲﾁｮｳｼｮｳ, セリアック病, グルテン腸症, グルテン性腸症, 小児脂肪便症, ツェリアキー, スプルー, ツエリアキー, Celiac病, セリアックスプルー, 幼稚症性脂肪便症
Swedish Glutenintolerans
Czech sprue celiakální, celiakie, gluténová enteropatie, Celiakie, Glutenová enteropatie, Celiakální sprue, Non-tropická sprue, Intolerance glutenu, Gluten senzitivní enteropatie
Finnish Keliakia
Russian BOLEZN' GLIUTENOVAIA, TSELIAKIIA, GLIUTENOVAIA ENTEROPATIIA, SPRU, БОЛЕЗНЬ ГЛЮТЕНОВАЯ, ГЛЮТЕНОВАЯ ЭНТЕРОПАТИЯ, СПРУ, ЦЕЛИАКИЯ
Korean 복강질환
Croatian CELIJAKIJA
Polish Celiakia, Sprue, Biegunka tłuszczowa dziecięca, Choroba trzewna, Upośledzone wchłanianie glutenu
Hungarian Coeliakia, Gluten enteropathia, Nem trópusi sprue, Coeliaca betegség, Gluten intolerantia, Gluten sensitiv enteropathia
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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