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Update on the evaluation and diagnosis of celiac disease

Leffler, Daniel A; Kelly, Ciaran P

Current Opinion in Allergy and Clinical Immunology: June 2006 - Volume 6 - Issue 3 - p 191–196
doi: 10.1097/01.all.0000225159.75521.e4
Food allergy

Purpose of review Our understanding of the pathophysiology of celiac disease has advanced with associated improvement in diagnostic modalities. Recent studies have placed the prevalence of celiac disease in Western populations at between 1:250 and 1:67. Celiac disease is common throughout the world and most cases go undiagnosed. Understanding the risk factors, clinical presentations and diagnostic modalities is necessary to identify and treat patients with this commonly misdiagnosed disorder.

Recent findings Increased prevalence of celiac disease in individuals with autoimmune diseases, reduced bone mineral density and undiagnosed liver disease have been confirmed. However, celiac disease may not be associated with Down's syndrome or epilepsy. Evidence supports high sensitivity and specificity of endomysial- and tissue transglutaminase-based tests in most settings. In children, high or low tissue transglutaminase levels may preclude the need for duodenal biopsy. Cost-effectiveness studies suggest using tissue transglutaminase or endomysial initially, while distal duodenal or jejunal biopsy may confirm celiac disease in the absence of proximal changes.

Summary There is insufficient evidence to support mass screening for celiac disease. However, case finding in individuals with risk factors for celiac disease is recommended. Further study is necessary to define diagnostic algorithms and target populations likely to benefit from testing.

Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA

Correspondence to Dr Ciaran P. Kelly, Beth Israel Deaconess Medical School, Boston, 330 Brookline Ave, E/DANA 601, MA 02215, USA Tel: +1 617 667 1264; e-mail:

Copyright © 2006 Wolters Kluwer Health, Inc. All rights reserved.