Celiac disease

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 2 Aug 2025

Last updated: 31 Jan 2025

Celiac disease is common, affecting up to 1% of the general population, and may present at any age.

Presentation is varied and ranges from diarrhea and failure to thrive, to iron-deficiency anemia or osteoporosis.

Diagnosis is suggested by positive immunoglobulin A tissue transglutaminase serology, but in most cases is confirmed by duodenal biopsy and histology.

The only current therapy is a strict, lifelong gluten-free diet.

Complications of untreated celiac disease include gastrointestinal symptoms, malabsorption, increased risk of malignancy, and higher overall mortality than in the general population.

Definition

Celiac disease is a systemic autoimmune disease triggered by dietary gluten peptides found in wheat, rye, barley, and related grains. Immune activation in the small intestine leads to villous atrophy, hypertrophy of the intestinal crypts, and increased numbers of lymphocytes in the epithelium and lamina propria. Locally, these changes lead to gastrointestinal symptoms and malabsorption. Systemic manifestations are diverse, potentially affecting almost every organ system.

History and exam

Key diagnostic factors

diarrhea
bloating
abdominal pain/discomfort
anemia
immunoglobulin (IgA) deficiency
dermatitis herpetiformis

Full details

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

Full details

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

Full details

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

Full details

Tests to consider

human leukocyte antigen (HLA) typing
gluten challenge
video capsule endoscopy
immunoglobulin G-tissue transglutaminase (IgG-tTG)

Full details

Treatment algorithm

ONGOING

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

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

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

Disclosures

MK declares that he has no competing interests.

Eli D. Ehrenpreis, MD

Professor of Medicine

Rosalind Franklin Medical School

Chicago

Disclosures

EDE declares that he has no competing interests.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

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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- Peptic duodenitis
- Crohn disease
- Giardiasis
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Guidelines
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- Informed consent for GI endoscopic procedures
More Guidelines
Patient information
Celiac disease
More Patient information
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Celiac disease

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic tests

1st tests to order

Tests to consider

Treatment algorithm

celiac disease

failure to respond to therapy/refractory celiac disease

celiac crisis

Contributors

Authors

Amelie Therrien, MD

Disclosures

Benjamin Lebwohl, MD, MS

Disclosures

Acknowledgements

Disclosures

Peer reviewers

Matthew Kurien, PGDip MedSci, MD, MBChB, MRCP

Disclosures

Eli D. Ehrenpreis, MD

Disclosures

Peer reviewer acknowledgements

Disclosures

References

Key articles

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials

Guidelines

Patient information

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

Log in to access all of BMJ Best Practice