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Celiac disease

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Updated 2023 ESPEN/UEG and 2020 AGA guidelines for the diagnosis and management of celiac disease.

Background

Overview

Definition
CD is an immune-mediated inflammatory enteropathy triggered by gluten exposure in genetically susceptible individuals.
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Pathophysiology
In patients with CD, the ingestion of gluten triggers an innate and adaptive immune response, leading to tissue inflammation and damage. Characteristically, deamidated gluten and the self-protein TG2 both become targets of highly disease specific B-cell responses.
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Epidemiology
In the US, the prevalence of CD is estimated at 500-1,000 persons per 100,000 population.
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Disease course
CD may result in disease manifestations related to malabsorption (e.g., electrolyte imbalances, osteoporosis, infertility, neurological disorders), manifestations of extra-intestinal autoimmunity (dermatitis herpetiformis), or manifestations of neoplastic complications (increased risk of enteropathy associated T-cell lymphoma and small bowel adenocarcinoma).
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Prognosis and risk of recurrence
The majority of patients will respond to a lifelong gluten-free diet which is the cornerstone of therapy.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of celiac disease are prepared by our editorial team based on guidelines from the American Diabetes Association (ADA 2024), the American Gastroenterological Association (AGA 2024,2022,2021,2019), the American College of Gastroenterology (ACG 2023,2013), the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN 2023,2020), the European Society of Gastrointestinal Endoscopy (ESGE 2023), ...
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Screening and diagnosis

Indications for screening, asymptomatic individuals: as per ACG 2023 guidelines, do not obtain mass screening for CD in the community. Obtain case finding to increase the detection of CD in clinical practice.
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  • Indications for screening (family relatives)

  • Indications for screening (iron deficiency anemia)

  • Indications for screening (T1DM)

  • Indications for testing

  • Diagnosis (seropositive)

  • Diagnosis (seronegative)

  • Differential diagnosis

Diagnostic investigations

Medical history
As per AGA 2021 guidelines:
Elicit a thorough medication history with attention to ARBs (such as olmesartan) and a travel history to identify potential etiologies of villous atrophy and guide additional testing.
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Obtain a careful review of the patient's diet.
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  • Serologic testing

  • HLA genotyping

  • Gluten challenge

  • Intestinal permeability tests

  • Stool and saliva studies

  • Evaluation for micronutrient deficiencies

  • Evaluation for osteoporosis

Diagnostic procedures

Upper gastrointestinal endoscopy: as per AGA 2019 guidelines, consider performing upper gastrointestinal endoscopy for differential diagnosis in adult patients with high levels (> 10 times the ULN) of anti-transglutaminase IgA and positive endomysial antibodies.
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  • Video capsule endoscopy

  • Small bowel follow-through

  • Duodenal biopsy

Medical management

Goals of treatment: as per ACG 2023 guidelines, consider setting a goal of intestinal healing as an endpoint of gluten-free diet therapy. Provide an individualized discussion of goals of the gluten-free diet with the patient beyond clinical and serological remission.
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  • Management of seronegative CD

  • Management of anemia

Nonpharmacologic interventions

Gluten-free diet, before the diagnosis
As per AGA 2019 guidelines:
Discourage reduction or avoidance of gluten intake before diagnostic testing, as it may reduce the sensitivity of both serologic testing and biopsy.
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Consider offering patients already following a gluten-free diet before the diagnosis to go back on a normal diet with 3 slices of wheat bread daily, preferably for 1- 3 months, before obtaining repeated anti-tissue transglutaminase IgA.
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  • Gluten-free diet (after the diagnosis)

  • Probiotics

Specific circumstances

Pediatric and adolescent patients, prevention
As per ESsCD 2019 guidelines:
Recognize that the duration of breastfeeding and/or gluten introduction while the infant is still breast fed has no impact on the risk of developing CD.
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Insufficient evidence to recommend avoiding either an early (at 4 months of age) or a late (at or after 6 or even 12 months) gluten introduction in children at risk of CD.
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  • Pediatric and adolescent patients (evaluation)

  • Pediatric and adolescent patients (probiotics)

  • Patients with obesity

  • Patients with H. pylori infection

  • Patients with non-celiac gluten sensitivity

  • Patients with enteropathy-associated T cell lymphoma

  • Patients with dermatitis herpetiformis

Patient education

Gluten detection devices: as per ACG 2023 guidelines, advise avoiding the routine use of gluten detection devices in food or biospecimens in patients with CD.
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Preventative measures

Pneumococcal vaccination: as per ACG 2023 guidelines, consider offering vaccination to prevent pneumococcal disease in patients with CD.
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Follow-up and surveillance

Follow-up, general principles
As per ESsCD 2019 guidelines:
Obtain periodic follow-up by a gastroenterologist or physician with special expertise in CD.
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Obtain regular monitoring for persistent or new symptoms, adherence to gluten-free diet and assessment for complications in patients with CD.
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  • Follow-up (monitoring for adherence)

  • Follow-up (serologic testing)

  • Follow-up (DEXA)

  • Management of refractory disease

  • Transition to adult care

Quality improvement

Labelling regulations: as per EADV 2021 guidelines, recognize the following regulations on gluten-free diets in Europe:
gluten-free labels guarantee safety for consumers with dermatitis herpetiformis and CD
foods labeled as "very low gluten content" are not suitable for consumers with dermatitis herpetiformis and CD
hidden gluten contamination should be avoided as it is easy to reach toxicity thresholds.
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