Stat Consult: Celiac disease

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Photomicrograph showing complete atrophy of the duodenal villi.
Photomicrograph showing complete atrophy of the duodenal villi.


  • Malabsorption syndrome related to immune reaction to gluten in diet. Also referred to as celiac sprue or gluten intolerance.

ICD-9 codes 

  • 579.0 celiac disease


  • Celiac disease may be more common than recognized.

  • Almost 1% of the Western population is estimated to have celiac disease.

  • Peak incidence occurs in adults who are aged 40-50 years.

  • Celiac disease is more common in women than in men (3.33:1)


  • Thought to be attributable to 

            - Genetics

            - Toxic effect of gluten/gliadin (gliadin is a glycoprotein component of gluten)

            - Immune reaction (antibody to gluten/gliadin)


  • Gluten is found in most food products that contain wheat, barley, and rye, so it is widely prevalent in typical diets.

  • Effects on intestinal mucosa

            - Villi become blunted or flat

            - Crypts hypertrophy

            - Increased numbers of intraepithelial lymphocytes, plasma cells, and lymphocytes in lamina propria

Risk factors 

  • Family history of celiac disease

  • Diabetes mellitus type 1


  • Collagenous sprue

  • Intestinal ulcers or strictures

  • Nutritional complications 

            - Malabsorption

            - Vitamin D deficiency

            - Osteomalacia/rickets
: Short stature; iron-resistant anemia

  • Delayed puberty 

  • Low bone mineral density and bone mineral content 

  • Malignancy (e.g. gastrointestinal cancer, non-Hogkin lymphoma)

Associated conditions 

  • Dermatologic conditions (e.g. dermatitis herpetiformis, xerosis, keratosis pilaris)

  • Immunologic conditions

    - Immunoglobulin (Ig)A deficiency

    - Common variable immunodeficiency

  • Rheumatologic conditions

    - Sjögren syndrome 

    - Rheumatoid arthritis 

  • Gastrointestinal conditions

    - Esophagitis

    - Microscopic colitis and irritable bowel syndrome

    - Association between celiac disease and primary biliary cirrhosis is controversial.

  • Endocrine conditions

    - Thyroid disease in children

    - Osteoporosis

    - Diabetes mellitus type 1

  • Neurologic disorders (e.g. hypotonia, developmental delay, learning disorders, headache, attention-deficit hyperactivity disorder)

  • Down syndrome

  • IgA nephropathy 

  • Social phobia and depression


  • Chronic diarrhea

  • Foul-smelling stools (pale, bulky, frothy, floating)

  • Abdominal bloating and pain 

  • Vomiting and weight loss 

  • Weakness, fatigue

Physical Exam

  • In infants

    - Growth retardation

    - Failure to thrive

    - Irritability

  • In children 

    - Short stature

    - Delayed puberty

  • Most patients are thin 

  • Dermatologic findings such as xerosis or keratosis pilaris

  • Abdominal distention may occur

Making the diagnosis 

  • A presumptive diagnosis is based on a combination of clinical presentation and positive serology (tissue transglutaminase or antiendomysial antibody tests).

  • Distal duodenal biopsy is needed to confirm diagnosis.

  • All initial serology testing and biopsies should be performed before starting gluten restriction.

Rule out 

  • Infection

    - Rotavirus gastroenteritis

    - Giardiasis

  • Immunologic conditions

    - Allergic enterocolitis (milk protein allergy, soy allergy, rice allergy)

    - Breast milk intolerance
    - Collagenous colitis

  • Malabsorption 

    - Lactose intolerance

    - Tropical sprue

    - Pancreatic insufficiency

    - Crohn's disease

  • Microscopic colitis

  • Lymphoma

Testing to consider

  • Serologic testing

    - IgA tissue transglutaminase antibody (tTG)

    - IgA antiendomysial antibody (EMA)

  • If antibody testing is positive, confirm with distal duodenal biopsy.

    - Positive findings on biopsy include: 
Villous atrophy; flattening of mucosa
; lymphocytes and plasma cells in lamina propria
; increased mitoses in crypts

  • If negative IgA tTG or IgA EMA and celiac disease is still suspected

    - Serum IgA level (if selective IgA deficiency, immunoglobulin G [Ig]G, tTG or IgG EMA can be used)

    - HLA genetic testing (absence of DQ2 or DQ8 alleles rules out celiac disease)

    - Upper intestinal endoscopy and distal duodenal biopsy if otherwise warranted

  • Testing for nutritional deficiencies (hemoglobin, iron, folate, calcium, vitamin D)

  • Radiographic studies are not necessary for celiac disease, but may be used to rule out other diagnoses.

Treatment overview 

  • Lifelong gluten-free diet recommended

    - Avoid all foods containing wheat, rye, and barley gluten

    - Avoid all foods containing oats and lactose initially

    - Avoid beers, lagers, ales, and stouts

    - Other foods that may include gluten include dextrins, malt, and caramel coloring. 

    - Beware of gluten in medications, and in food additives, emulsifiers, and stabilizers.

    - Wheat flour may be used in many prepared foods including canned products, salad dressings, and 
ice creams.

    - Use only rice, corn, maize, buckwheat, potato, soybean, or tapioca flours, meals, or starches.

    - Look for foods with the gluten-free symbol.

    - Try wheat starch with gluten removed, oats, and lactose after diagnosis is established.

  • The amount of gluten that causes symptoms varies among patients with celiac disease.

  • Strict adherence to a gluten-free diet for more than five years may reduce risk for non-Hodgkin lymphoma.

  • Oats in diet appear safe in controlled trials, but some patients may have oat intolerance and commercial oats are often contaminated with gluten.

  • Treat nutritional deficiencies with special attention to iron, folate, and vitamin B12.

  • Addition of budesonide to a gluten-free diet may im­­prove symptoms in patients with celiac disease with malabsorption

  • Limited evidence for immunosuppression therapy (e.g. azathioprine, infliximab, cyclosporine) for refractory celiac disease 

Additional considerations

  • Refer patient to experienced dietitian

  • Refer patient to support group

  • In patients with newly diagnosed celiac disease who also have anxiety and depression, adding psychological support when starting a gluten-free diet is associated with lower rates of depression after six months.

  • Gluten-free camp attendance reported to improve quality of life in children with celiac disease


  • Monitor patients for improved symptoms in response to a gluten-free diet (expected after six to 12 months)

  • Monitor dietary compliance

  • Check bone mineral density to assess for osteoporosis

Brian Randall, MD, is a clinical editor for DynaMed, a database of comprehensive updated summaries covering more than 3,200 clinical topics, and Assistant Clinical Professor of Family Medicine at Tufts University School of Medicine.

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