Celiac Disease – Causes, Symptoms, Diagnosis, Treatment and Ongoing care



  • Classically, a chronic diarrheal disease characterized by intestinal malabsorption of virtually all nutrients and precipitated by eating gluten-containing foods. Multiple forms exist.
  • Nondiarrheal form may actually be more common (intestinal villous atrophy produces vitamin and mineral malabsorption)
  • System(s) affected: Gastrointestinal
  • Synonym(s): Sprue; Gluten enteropathy; Celiac sprue



  • Disease primarily of individuals of Northern European ancestry
  • Predominant sex: Female > Male (3:2)


∼1 in 133 persons in US

Risk Factors

  • 1st-degree relatives: 10% incidence
  • 71% in monozygotic twins


HLA-DQ2 and/or DQ8 closely associated (testing may be indicated if indeterminate small bowel pathology)

General Prevention

Avoid all gluten-containing products (wheat, barley, rye, and possibly oat products).


Sensitivity to gluten, specifically gliadin fraction

Commonly Associated Conditions

  • May have secondary lactase deficiency
  • Extraintestinal manifestation may include marked decrease in bone density
  • Dermatitis herpetiformis common
  • Autoimmune thyroiditis
  • Diabetes, type 1 (prevalence of celiac disease in type 1 diabetes is 3–8%)
  • Elevated AST and ALT
  • Recurrent fetal loss or infertility
  • IBS (irritable bowel syndrome) (1)[A]
  • Restless legs syndrome (2)

Pregnancy Considerations

  • Celiac disease may be an underappreciated cause of male and female infertility. Consider celiac disease in pregnant women with severe anemia.

Coeliac disease, HLA-DQ2, crohn disease, Immunoglobulin A, Crohn, iron deficiency anemia, aphthous stomatitis, irritable bowel syndrome, celiac sprue,



  • Diarrhea
  • Steatorrhea
  • Muscle cramps
  • Iron-deficiency anemia
  • Nervousness
  • Weight loss
  • Failure to thrive (slowing velocity of weight gain)
  • Weakness
  • Lassitude
  • Fatigue
  • Large appetite
  • Explosive flatulence
  • Abdominal pain, nausea, vomiting rare
  • Recurrent aphthous stomatitis
  • Abdominal distention

Pediatric Considerations

  • Failure to thrive and delayed growth with short stature may be early manifestations. A few children may outgrow intolerance to wheat after prolonged gluten-free diets, but should be cautioned to watch for signs of recurrence in middle age.

Diagnostic Tests & Interpretation


Initial lab tests

Positive IgA antiendomysial antibodies and IgA tissue transglutaminase (sensitivity 90–98%, specificity 98%) when on normal (nongluten-free) diet

Follow-Up & Special Considerations

  • IgA-deficient patients have false-negative IgA antiendomysial and IgA antitransglutaminase antibodies
  • tTG (the tissue transglutaminase antibody test) is the preferred test (over the deamidated gliadin peptide [DGP] antibody) (3,4)[A].
  • 72-hour fecal fat showing >7% fat malabsorption
  • Elevated liver function tests
  • d-Xylose test showing malabsorption
  • Decreased calcium
  • Increased prothrombin time (PT)
  • Decreased neutral fats
  • Decreased cholesterol
  • Decreased vitamin A
  • Decreased vitamin B12 (rare)
  • Decreased vitamin D
  • Decreased vitamin C
  • Decreased folic acid
  • Decreased iron (common)
  • Decreased total protein
  • Decreased hemoglobin (common)


Initial approach

Upper GI series showing flocculation of barium, edema, and flattening of mucosal folds

Follow-Up & Special Considerations

Evaluate for osteoporosis

Diagnostic Procedures/Surgery

  • Endoscopy with diagnostic biopsy of the duodenal mucosa with repeat endoscopy and normal biopsy on a gluten-free diet is necessary before a firm diagnosis can be made.
  • In general, diagnosis should not be made based on serology alone.

Pathological Findings

Small bowel biopsy:

  • Flattened villi, hyperplasia and lengthening of crypts, infiltration of plasma cells, and lymphocytes in lamina propria

Differential Diagnosis

  • Short bowel syndrome
  • Pancreatic insufficiency
  • Crohn disease
  • Whipple disease
  • Hypogammaglobulinemia
  • Tropical sprue
  • Lymphoma
  • AIDS
  • Acute enteritis
  • Giardiasis
  • Eosinophilic gastroenteritis
  • Pancreatic disease


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First Line

Usually none: Gluten-free diet is treatment

Second Line

  • In refractory disease, consider:
    • Steroids (prednisone, 40–60 mg/d p.o. in cases of refractory sprue)
    • Azathioprine (immunosuppressants should be used with caution; use may lead to lymphoma in celiac disease)
    • Cyclosporine
    • Infliximab
    • Cladribine
  • Patients may require supplemental calcium, calcium carbonate, 500 mg p.o. b.i.d., and vitamin D (ergocalciferol) 10–100 g/d; in severe malabsorption, up to 2.5 mg/d may be required.

Additional Treatment

General Measures

  • Removal of gluten from the diet. Rice, corn, and soybean flour are safe, palatable substitutes.
  • Levels of IgA antigliadin normalize with gluten abstinence.

Issues for Referral

  • Additional nutritional support
  • Refractory disease

Ongoing Care

Follow-Up Recommendations

  • Consultation with dietitian
  • Screening for osteoporosis

Patient Monitoring

  • Repeat endoscopy after 6–8 weeks on a gluten-free diet (in selected cases).
  • IgA antigliadin assay may be used to monitor response to gluten-free diet.


Removal of gluten: Wheat, rye, barley, and those with gluten additives. This can be a challenging diet (especially learning sources of “hidden” gluten) and should be coordinated with a skilled dietitian.

Patient Education

  • Discuss importance of recognizing gluten in various products.
  • Highlight potential complications and outcomes of failing to follow a gluten-free diet.


  • Good with correct diagnosis and adherence to gluten-free diet
  • Patient should feel better in 7 days.
  • All symptoms usually disappear in 4–6 weeks.
  • It is unknown whether strict dietary adherence decreases cancer risk.


  • Malignancy: <10% of patients (50% of whom have small bowel lymphoma)
  • Refractory sprue:
    • May respond to prednisone 40–60 mg/d p.o.
    • Refractory sprue unresponsive to corticosteroid therapy raises the specter of adult-onset autoimmune enteropathy or cryptic T-cell lymphoma. In this circumstance, screening for antienterocyte autoantibodies and careful scrutiny of the small intestine, including retroperitoneal lymph node biopsy with full-thickness small bowel biopsy, may be needed.
  • Chronic ulcerative jejunoileitis:
    • Associated with multiple ulcers, intestinal bleeding, strictures, perforation, obstruction, and peritonitis
    • 7% mortality
  • Osteoporosis secondary to decreased vitamin D and calcium absorption
  • Dehydration
  • Electrolyte depletion
  • Refractory cases may need total parenteral nutrition.


1. Ford AC, Chey WD, Talley NJ, et al. Yield of diagnostic tests for celiac disease in individuals with symptoms suggestive of irritable bowel syndrome: systematic review and meta-analysis. Arch Intern Med.2009;169:651–8.

2. Weinstock L, Walters A, Mullin G, et al. Celiac disease is associated with restless legs syndrome. Dig Dis Sci. 2010;55:1667–73.

3. Lewis NR, Scott BB et al. Meta-analysis: deamidated gliadin peptide antibody and tissue transglutaminase antibody compared as screening tests for coeliac disease. Aliment Pharmacol Ther. 2010;31:73–81.

4. van der Windt DA, Jellema P, Mulder CJ, Kneepkens CM, van der Horst HE et al. Diagnostic testing for celiac disease among patients with abdominal symptoms: a systematic review. JAMA. 2010;303:1738–46.

Additional Reading

AGA Institute. AGA Institute Medical Position Statement on the Diagnosis and Management of Celiac Disease. Gastroenterology. 2006;131:1977–80.

Celiac Disease: A Hidden Epidemic by Peter Green.

Celiac Sprue Association (CSA) http://www.csaceliacs.org.

Guidelines for a Gluten-free Lifestyle, 3rd. ed. Celiac Disease Foundation. http://www.celiac.org.

Quick Start Diet Guide: Celiac Disease Foundation (CDF) & Gluten Intolerance Group (GIG). http://www.celiac.org, http://www.gluten.net.

See Also (Topic, Algorithm, Electronic Media Element)

Algorithms: Diarrhea, Chronic; Malabsorption Syndrome



579.0 Celiac disease


396331005 Celiac disease (disorder)

Clinical Pearls

  • Common condition (1 in 133)
  • Characterized by mucosal inflammation and villous atrophy
  • Associated with malabsorption of nutrients
  • Treatment is gluten-free diet.
  • Test for celiac disease in patients with IBS.

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