Celiac disease

Last reviewed: 23 Aug 2023
Last updated: 18 Jul 2023

Summary

Definition

History and exam

Key diagnostic factors

  • diarrhea
  • bloating
  • abdominal pain/discomfort
  • anemia
  • immunoglobulin (IgA) deficiency
  • dermatitis herpetiformis
More key diagnostic factors

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
Other diagnostic factors

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
More risk factors

Diagnostic investigations

1st investigations 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
More 1st investigations to order

Investigations to consider

  • human leukocyte antigen (HLA) typing
  • gluten challenge
  • video capsule endoscopy
More investigations to consider

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

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.

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