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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
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[Seronegative celiac disease: A case report].

L M Krums1, A I Parfenov1, E A Sabelnikova1

  • 1Moscow Clinical Research and Practical Center, Moscow Healthcare Department, Moscow, Russia.

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This case study highlights a rare presentation of celiac disease without typical anti-tissue transglutaminase (anti-tTG) antibodies. Diagnosis and treatment led to significant recovery, emphasizing the importance of considering celiac disease even with negative serology.

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Area of Science:

  • Gastroenterology
  • Immunology
  • Internal Medicine

Background:

  • Celiac disease is an autoimmune disorder triggered by gluten ingestion, typically associated with elevated serum anti-tissue transglutaminase (anti-tTG) antibodies.
  • Diagnosis often relies on serological markers and small intestinal biopsy showing villous atrophy.
  • Atypical presentations can pose diagnostic challenges.

Observation:

  • A 51-year-old patient presented with a 20-year history of diarrhea, significant weight loss, weakness, and pseudo-obstruction.
  • Small intestinal mucosal (SIM) biopsy revealed severe villous atrophy (Marsh IIIC stage).
  • Serum IgA and IgG anti-tTG antibody levels were below the diagnostic threshold.

Findings:

  • Despite negative serological tests for celiac disease, the patient's clinical presentation and biopsy findings were consistent with the condition.
  • Treatment with a gluten-free diet, electrolyte solutions, and prednisolone resulted in substantial clinical improvement and weight gain within 6 months.
  • Histological examination showed an increase in SIM villus height post-treatment.

Implications:

  • This case underscores that celiac disease can occur in the absence of detectable anti-tTG antibodies, necessitating a high index of suspicion in patients with compatible symptoms and biopsy findings.
  • It highlights the importance of integrating clinical, histological, and serological data for accurate diagnosis.
  • Further research may be warranted to understand the mechanisms behind seronegative celiac disease and refine diagnostic strategies.