Last reviewed: 5 Nov 2021
Last updated: 20 Oct 2020

Summary

Definition

History and exam

Key diagnostic factors

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

Risk factors

  • family history of celiac disease
  • immunoglobulin A deficiency
  • type 1 diabetes
  • autoimmune thyroid disease
  • Down syndrome
  • Sjogren syndrome
  • inflammatory bowel disease
  • primary biliary cholangitis

Diagnostic investigations

1st investigations to order

  • CBC and blood smear
  • immunoglobulin A-tissue transglutaminase (IgA-tTG)
  • endomysial antibody (EMA)
  • skin biopsy
  • IgG DGP (deamidated gliadin peptide) or IgA/IgG DGP
  • IgG-tTG
  • small bowel endoscopy
  • small bowel histology

Investigations to consider

  • human leukocyte antigen (HLA) typing
  • gluten challenge
  • video capsule endoscopy

Treatment algorithm

Contributors

Authors

Amelie Therrien, MD

Clinical Research Fellow in Celiac Disease

Harvard Medical School

Beth Israel Deaconess Medical Center

Boston

MA

Disclosures

AT declares that she has no competing interests.

Ciaran P. Kelly, MD
Ciaran P. Kelly

Professor of Medicine

Harvard Medical School

Beth Israel Deaconess Medical Center

Boston

MA

Disclosures

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.

Acknowledgements

Dr Amelie Therrien and Professor Ciaran P. Kelly would like to gratefully acknowledge Dr Daniel A. Leffler, a previous contributor to this topic.

Disclosures

DAL declares that he has no competing interests.

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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