Celiac DiseaseBen Greenfield

28 September 2013

Epidemiology1% of the population in North AmericaMore common in the Caucasian population,

very rare in Asian and African populationsMore common in femalesMost often presents from 9-18 months, but

may present any time

PathophysiologyAutoimmune response against tissue

transglutaminase (tTG)Gluten triggers the autoimmune responseAssociated with HLA DQ-2 gene (or DQ-8

sometimes)Small intestine is most affectedMucosal layer is affectedLymphocystosis within epithelial cells,

hyperplasia of crypts, and atrophy/blunting of villi is observed

PresentationCommonly presents with diarrhea, vomiting,

abdominal pain +/- abdominal distentionCan present with more severe symptoms

secondary to malnutrition such as weakness due to muscle wasting or lethargy.

Can be “silent” without any manifestations.

Diagnosis/FindingsDiagnosisFirst: anti-tTG, anti-endomysial antibodies

(EMA) – if anti-tTG is 10x greater than normal and + EMA, biopsy may not be required for diagnosis

Endoscopic biopsy (at least 4 samples) – see staging on next slide

Other Possible FindingsLow potassium, calcium, folate, magnesium,

vitamin D, vitamin K, albumin, zincNormal B12

StagingType 0 = Pre-infiltrative stage (normal tissue)Type 1 = Infiltrative lesion (increased

lymphocytes within epithelial cells)Type 2 = Hyperplastic lesion (same as type 1,

but also with hyperplastic crypts)Type 3 = destructive lesion (same as type 2,

but also with atrophy of villi) – there are sub-categories of a, b, and c, based on increasing severity of atrophy.

ManagementLifelong avoidance of gluten containing foods

(wheat, rye, barley)Temporary vitamin supplementation may be

requiredLactose avoidance until symptoms are well-

controlled by gluten-free dietMonitoring for other autoimmune diseases-

refer to endocrinologist as neededSteroids for severe or refractory symptomsTopical dapsone for dermatitis herpetiformis

ComplicationsLactose intoleranceMalignancy – Small bowel lymphoma is

highest risk; also, esophageal cancer, small bowel adenocarcinoma

AnemiaMiscarriageOsteomalacia, osteopenia, osteoporosis

ReferencesS Guandalini, C Cuffari, S Schwarz, P Vallee,

J Vargas. “Pediatric Celiac Disease.” Medscape. 18 April 2013. Web. 28 September 2013.

Murphy S, Walker A. “Celiac Disease” Pediatrics in Review 1991;12;325-330. Web. 24 September 2013