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Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
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Related Experiment Video

Updated: Aug 28, 2025

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Seronegative Celiac Disease - A Challenging Case.

Inês M Araújo1, Margarida Robalo1, Rui Domingues1

  • 1Internal Medicine, Braga Public Hospital, Braga, PRT.

Cureus
|September 15, 2022
PubMed
Summary

Seronegative celiac disease, an autoimmune disorder triggered by gluten, can be diagnosed in older adults through genetic testing and symptom improvement after a gluten-free diet. This case highlights diagnostic challenges and the importance of considering celiac disease even without typical antibodies.

Keywords:
celiac diseasediagnosisgluten-free dietnausea and vomitingvillous atrophy

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Area of Science:

  • Gastroenterology
  • Immunology
  • Genetics

Background:

  • Celiac disease is an autoimmune enteropathy triggered by gluten, involving genetic predisposition and autoimmunity.
  • It can manifest at any age, presenting diagnostic challenges, particularly in older adults.
  • Seronegative celiac disease lacks typical antibodies, complicating diagnosis and requiring exclusion of other conditions.

Observation:

  • A 76-year-old woman presented with chronic nausea, vomiting, asthenia, and weight loss.
  • Initial investigations for infections, tumors, and endocrinopathies were negative.
  • Immunological studies, including celiac disease antibodies, were inconclusive.

Findings:

  • Upper endoscopy revealed villous atrophy, and capsule endoscopy suggested celiac or Whipple's disease.
  • Genetic analysis confirmed the presence of HLA DR7-DQ2, a marker associated with celiac disease.
  • After a year on a gluten-free diet, the patient showed significant clinical and histological improvement.

Implications:

  • This case underscores the complexity of diagnosing seronegative celiac disease in the elderly.
  • It emphasizes the importance of considering celiac disease despite negative serology, especially with villous atrophy.
  • Histological improvement following a gluten-free diet, alongside genetic testing, is crucial for confirming the diagnosis.