What about a Negative Serology in an Adolescent with Celiac Disease Case Report

Background: Celiac disease (CD) is an immune-mediated systemic disorder elicited by gluten. Classic diagnosis is based on positive tissue transglutaminase type 2 (TTG2) antibodies and histopathological features as villi atrophy. Seronegative celiac patients are very rare in Pediatrics. We describe a unique case of celiac disease in a seronegative adolescent.

Case Report: A 15-year-old girl diagnosed with Blackfan-Diamond anemia at birth was referred to a Pediatric Gastroenterologist due to abdominal pain that started two months prior. She was on immunosuppressive therapy with systemic corticosteroids due to her hematological disease up to three months prior. The pain was more intense in the right upper quadrant and the diagnosis of primary biliary dyskinesia was proposed. Celiac screening workup (TTG2, Gliadin and endomisium antibodies) was negative. During an intense pain episode she was admitted to hospital and underwent an upper endoscopy which showed no relevant features. Gastric and duodenal samples were taken and microscopical examination showed moderate villi atrophy with intraepithelial lymphocytosis corresponding to a grade 3b in the modified Marsh classification (Marsh-Oberhuber). Clinical remission was achieved after a gluten-free diet (GFD). One year after diagnosis duodenal/bulb biopsy was repeated showing marked improvement without villi atrophy or crypt hyperplasia but with some intraepithelial lymphocytes (less than 30 per 100 enterocytes) which corresponds to a grade 0/1 in the modified Marsh classification (Marsh-Oberhuber). She remains clinically well on a GFD.

Conclusions: CD antibodies are not detectable in the blood of all patients with DC, especially in those under systemic immunosuppression. Strong clinical suspicion should always lead to further investigation with histolopathological analysis even in cases with negative serology.