Related Experiment Video
Updated: Mar 21, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Celiac disease: is it really possible to overcome duodenal biopsy?
Elisabetta Grande1, Silvia Ferranti, Carla Gaggiano
1University of Siena, Siena, Italy.. grande.elisabetta@yahoo.it.
Insights
This case highlights potential celiac disease diagnosis in a child with high antibodies but no biopsy findings, challenging typical diagnostic relationships.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Celiac Disease Diagnostics
Background:
- Celiac disease screening is crucial in children with a family history.
- Diagnosis typically relies on antibody levels and intestinal biopsy findings.
- ESPGHAN guidelines offer criteria for diagnosing celiac disease without biopsy in specific high-risk cases.
Observation:
- A two-year-five-month-old child presented with high celiac disease antibodies (tTG IgA: 100 UI/ml) and a high-risk HLA genotype (DQ2 heterodymer).
- Despite elevated transaminases and positive EMA IgA, intestinal biopsy showed no mucosal damage (Marsh 0).
- The child remained asymptomatic on a free diet, with antibody titers normalizing.
Findings:
- The case presents a discrepancy between high antibody levels and negative histology, challenging the expected correlation.
- High-risk HLA and elevated antibodies suggested celiac disease, but the Marsh 0 biopsy led to a potential celiac disease diagnosis.
- This contrasts with literature suggesting a linear relationship between antibody levels and histological damage in potential celiac disease.
Implications:
- This case questions the strict adherence to diagnostic guidelines when clinical and histological findings diverge.
- It emphasizes the importance of considering individual patient presentations beyond antibody titers and HLA status.
- Further research may be needed to refine diagnostic criteria for potential celiac disease, especially in pediatric cases with atypical presentations.
Abstract:
We report the case of a two-year-five-month-old child who underwent screening for celiac disease due to strong familiarity. During the first observation body weight and height were at 25th and 50th centile for gender and age. Physical examination did not reveal any sign of disease. Blood tests showed increased transaminases levels and antibodies research showed: tTG IgA: 100 UI/ml, tTG IgG: 36,6 UI/ml, EMA IgA: positive. HLA study revealed homozygous allelic combination DRB1*07;DQA102:01; DQB1* 02:02 with presence of a double copy of beta chain in the composition of the DQ2 heterodymer. Biopsy with histological examination did find neither mucosal alteration nor lymphocytic infiltrates (Marsh 0). During follow up with free diet the patient remained asymptomatic and all antibody titers decreased up to normalization. According to ESPGHAN guidelines the finding of hypertransaminasemia as sign of celiac hepatic inflammation, a more than 10-fold increase of tTG IgA and a high-risk HLA would permit diagnosis of celiac disease but histological examination done due to mismatch between paucity of clinical sings and a "multiple risk combination" excluded it, allowing diagnosis of potential celiac disease. We believe that this case is interesting because of its being in contrast with current literature data that suggest a linear relationship between antibodies levels and histological damage with tTG IgA at the upper reference range in case of potential celiac disease. According to guidelines we could have avoided intestinal biopsy but we would have considered as celiac a patient who is maybe just potentially affected.
Related Concept Videos
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
Peptic Ulcer Disease III: Clinical Manifestations and Diagnostic Studies
Few clinical manifestations differentiate gastric ulcers from duodenal ulcers. Distinctions in the location, timing, and pain relief are crucial for healthcare providers in differentiating between gastric and duodenal ulcers during clinical assessments.
Chronic Pancreatitis II: Collaborative Care
Assessment:
Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents
Drugs for Treatment of Crohn's Disease in IBD Using Glucocorticoids
Inflammatory Bowel Disease IV: Pharmacological Management
Pharmacologic...

