Ben Greenfield 28 September 2013

Epidemiology 1% of the population in North America More common in the Caucasian population, very rare in Asian and African populations More common in females Most often presents from 9-18 months, but may present any time

Pathophysiology Autoimmune response against tissue transglutaminase (tTG) Gluten triggers the autoimmune response Associated with HLA DQ-2 gene (or DQ-8 sometimes) Small intestine is most affected Mucosal layer is affected Lymphocystosis within epithelial cells, hyperplasia of crypts, and atrophy/blunting of villi is observed

Presentation Commonly presents with diarrhea, vomiting, abdominal pain +/- abdominal distention Can present with more severe symptoms secondary to malnutrition such as weakness due to muscle wasting or lethargy. Can be “silent” without any manifestations.

Diagnosis/Findings Diagnosis First: 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 Findings Low potassium, calcium, folate, magnesium, vitamin D, vitamin K, albumin, zinc Normal B12

Staging Type 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.

Management Lifelong avoidance of gluten containing foods (wheat, rye, barley) Temporary vitamin supplementation may be required Lactose avoidance until symptoms are well-controlled by gluten-free diet Monitoring for other autoimmune diseases- refer to endocrinologist as needed Steroids for severe or refractory symptoms Topical dapsone for dermatitis herpetiformis

Complications Lactose intolerance Malignancy – Small bowel lymphoma is highest risk; also, esophageal cancer, small bowel adenocarcinoma Anemia Miscarriage Osteomalacia, osteopenia, osteoporosis

References S Guandalini, C Cuffari, S Schwarz, P Vallee, J Vargas. “Pediatric Celiac Disease.” Medscape. 18 April Web. 28 September Murphy S, Walker A. “Celiac Disease” Pediatrics in Review 1991;12; Web. 24 September 2013