Celiac disease

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Última revisão: 18 Aug 2025

Última atualização: 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.

Definição

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.

História e exame físico

Principais fatores diagnósticos

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

Detalhes completos

Outros fatores diagnósticos

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

Detalhes completos

Fatores de risco

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

Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

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

Detalhes completos

Investigações a serem consideradas

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

Detalhes completos

Algoritmo de tratamento

CONTÍNUA

celiac disease

failure to respond to therapy/refractory celiac disease

celiac crisis

Colaboradores

Autores

Amelie Therrien, MD

Gastroenterologist, Celiac Center

Instructor in Medicine, Harvard Medical School

Beth Israel Deaconess Medical Center

Boston

Declarações

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

Declarações

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.

Agradecimentos

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.

Declarações

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.

Revisores

Matthew Kurien, PGDip MedSci, MD, MBChB, MRCP

Senior Clinical Lecturer and Honorary Consultant Gastroenterologist

Department of Infection, Immunity & Cardiovascular Disease

Sheffield Medical School

Sheffield

Declarações

MK declares that he has no competing interests.

Eli D. Ehrenpreis, MD

Professor of Medicine

Rosalind Franklin Medical School

Chicago

Declarações

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.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo Resumo

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.Texto completo Resumo

Chaudrey KH. ACG guideline: diagnosis and management of celiac disease. Am J Gastroenterol. 2023;118(1):23. Resumo

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.Texto completo Resumo

National Institute for Health and Care Excellence. Coeliac disease: recognition, assessment and management. Sep 2015 [internet publication].Texto completo

Academy of Nutrition and Dietetics (American Dietetic Association). Celiac disease evidence-based nutrition practice guideline. 2021 [internet publication].Texto completo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais
- Peptic duodenitis
- Crohn disease
- Giardiasis
Mais Diagnósticos diferenciais
Diretrizes
- Diagnosis and management of celiac disease
- Informed consent for GI endoscopic procedures
Mais Diretrizes
Folhetos informativos para os pacientes
Celiac disease
Mais Folhetos informativos para os pacientes
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Celiac disease

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

Outros fatores diagnósticos

Fatores de risco

Investigações diagnósticas

Primeiras investigações a serem solicitadas

Investigações a serem consideradas

Algoritmo de tratamento

celiac disease

failure to respond to therapy/refractory celiac disease

celiac crisis

Colaboradores

Autores

Amelie Therrien, MD

Declarações

Benjamin Lebwohl, MD, MS

Declarações

Agradecimentos

Declarações

Revisores

Matthew Kurien, PGDip MedSci, MD, MBChB, MRCP

Declarações

Eli D. Ehrenpreis, MD

Declarações

Peer reviewer acknowledgements

Disclosures

Referências

Principais artigos

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

Diagnósticos diferenciais

Diretrizes

Folhetos informativos para os pacientes

Conectar-se ou assinar para acessar todo o BMJ Best Practice

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