Stat Consult: Celiac disease

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


Follow-up 


• 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.