Summary
Definition
History and exam
Key diagnostic factors
- diarrhea
- bloating
- abdominal pain/discomfort
- anemia
- immunoglobulin (IgA) deficiency
- dermatitis herpetiformis
Other diagnostic factors
- family history
- osteopenia/osteoporosis
- fatigue
- weight loss
- failure to thrive
- type 1 diabetes
- autoimmune thyroid disease
- aphthous stomatitis
- dental enamel hypoplasia
- easy bruising
- peripheral neuropathy
- ataxia
- unexplained elevation of serum aminotransferase levels
- comorbid psychiatric diagnosis
Risk factors
- family history of celiac disease
- immunoglobulin A deficiency
- type 1 diabetes
- autoimmune thyroid disease
- Down syndrome
- Turner syndrome
- Sjogren syndrome
- inflammatory bowel disease
- primary biliary cholangitis
- psoriasis
Diagnostic tests
1st tests to order
- immunoglobulin A-tissue transglutaminase (IgA-tTG)
- quantitative IgA
- IgG DGP (deamidated gliadin peptide)
- CBC
- endomysial antibody (EMA)
- skin biopsy
- small bowel endoscopy
- small bowel histology
Tests to consider
- human leukocyte antigen (HLA) typing
- gluten challenge
- video capsule endoscopy
- immunoglobulin G-tissue transglutaminase (IgG-tTG)
Treatment algorithm
celiac disease
failure to respond to therapy/refractory celiac disease
celiac crisis
Contributors
Authors
Amelie Therrien, MD
Gastroenterologist, Celiac Center
Instructor in Medicine, Harvard Medical School
Beth Israel Deaconess Medical Center
Boston
MA
Disclosures
AT is a site principal investigator for National Institute of Allergy and Infectious Diseases NIAID (IMX003 [latiglutenase]).
Benjamin Lebwohl, MD, MS
Associate Professor of Medicine and Epidemiology
Columbia University Irving Medical Center
New York
NY
Disclosures
BL is an unpaid advisor for Nima Partners, Takeda, Teva, 9 Meters Biopharma, Bristol Myers Squibb, Mozart Therapeutics, and Alimentiv and a contractual researcher for Anokion. BL is an author of several references in this topic.
Acknowledgements
Dr Amelie Therrien and Dr Benjamin Lebwohl would like to gratefully acknowledge Professor Ciaran P. Kelly and Dr Daniel A. Leffler, previous contributors to this topic.
Disclosures
DAL declares that he has no competing interests. CPK is a scientific advisor/consultant for Cour Pharma, Glutenostics, Immunogenx, Innovate, and Takeda Pharmaceuticals. He is an investigator for Aptalis and Takeda, and has stock options in Cour Pharma and Glutenostics. CPK is also a co-author of several references cited in this topic.
Peer reviewers
Matthew Kurien, PGDip MedSci, MD, MBChB, MRCP
Senior Clinical Lecturer and Honorary Consultant Gastroenterologist
Department of Infection, Immunity & Cardiovascular Disease
Sheffield Medical School
Sheffield
UK
Disclosures
MK declares that he has no competing interests.
Eli D. Ehrenpreis, MD
Professor of Medicine
Rosalind Franklin Medical School
Chicago
IL
Disclosures
EDE declares that he has no competing interests.
References
Key articles
Al-Toma A, Volta U, Auricchio R, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J. 2019 Jun;7(5):583-613.Full text Abstract
van der Windt DA, Jellema P, Mulder CJ, et al. Diagnostic testing for celiac disease among patients with abdominal symptoms: a systematic review. JAMA. 2010 May 5;303(17):1738-46.Full text Abstract
Chaudrey KH. ACG guideline: diagnosis and management of celiac disease. Am J Gastroenterol. 2023;118(1):23. Abstract
Husby S, Koletzko S, Korponay-Szabó I, et al. European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for diagnosing coeliac disease 2020. J Pediatr Gastroenterol Nutr. 2020 Jan;70(1):141-56.Full text Abstract
National Institute for Health and Care Excellence. Coeliac disease: recognition, assessment and management. Sep 2015 [internet publication].Full text
Academy of Nutrition and Dietetics (American Dietetic Association). Celiac disease evidence-based nutrition practice guideline. 2021 [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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