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Celiac Disease-Related Conditions: Who to Test?

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Celiac disease (CeD) screening is recommended for individuals with autoimmune conditions, gastrointestinal disorders, or specific genetic syndromes. Proactive serologic testing in high-risk groups is key to identifying undiagnosed CeD cases.

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Area of Science:

  • Gastroenterology
  • Immunology
  • Genetics

Background:

  • Celiac disease (CeD) is an immune-mediated disorder triggered by gluten in genetically susceptible individuals, affecting about 1% of the population.
  • CeD presentation is diverse and often underestimated, highlighting the need for improved diagnostic strategies.
  • Proactive case finding via serologic testing in high-risk groups is the most effective method for identifying undiagnosed CeD.

Purpose of the Study:

  • To review recent evidence on the association between CeD and over 20 other medical conditions.
  • To establish recommendations for CeD screening in specific patient populations.
  • To guide clinicians on the appropriate diagnostic steps for suspected CeD.

Main Methods:

  • Comprehensive literature review of recent evidence linking CeD with various conditions.
  • Analysis of associations to identify high-prevalence and high-risk groups for CeD.
  • Formulation of screening recommendations based on the reviewed evidence.

Main Results:

  • CeD screening is recommended for individuals with autoimmune diseases, conditions mimicking CeD (e.g., IBS, IBD), and those with high CeD prevalence (e.g., first-degree relatives, type 1 diabetes, autoimmune thyroid disease).
  • Specific conditions warranting CeD screening include dermatitis herpetiformis, unexplained ataxia, IgA deficiency, and certain genetic syndromes like Down syndrome.
  • Serologic testing is the recommended initial screening step, with biopsies advised during upper endoscopy for at-risk patients.

Conclusions:

  • Systematic CeD screening in identified high-risk groups is crucial for early diagnosis and management.
  • Integrating CeD screening into the workup of associated conditions can improve patient outcomes.
  • Physicians should consider CeD in patients presenting with a wide range of symptoms and comorbidities.