Abstract

BackgroundA subset of patients with serology suggesting celiac disease have an initially negative biopsy but subsequently develop histopathologic celiac disease. Here we characterize patients with potential celiac disease who progress to celiac disease.MethodsWe performed a retrospective analysis of children (0–18 years of age) with biopsy-confirmed celiac disease seen at St. Louis Children’s Hospital between 2013 and 2018.ResultsThree hundred sixteen of 327 (96%) children with biopsy-confirmed celiac disease were diagnosed on initial biopsy. The 11 children with potential celiac disease who progressed to celiac disease had lower anti-tissue transglutaminase (anti-TTG IgA) concentrations (2.4 (1.6–5) X upper limit of normal (ULN) vs. 6.41 (3.4–10.5) X ULN) at time of first biopsy. Their median anti-TTG IgA concentrations rose from 2.4 (1.6–5) X ULN to 3.6 (3.1–9.2) X ULN between biopsies.ConclusionsFour percent of biopsy confirmed celiac patients initially had a negative biopsy, but later developed histopathologic celiac disease. This is likely an underestimate as no surveillance algorithm was in place. We recommend repeat assessment in children whose serology suggests celiac disease despite normal small bowel biopsy.

Highlights

  • Celiac disease is an autoimmune enteropathy triggered by gluten and its related proteins found in wheat, rye, and barley

  • The diagnosis of celiac disease is typically made with a combination of serological testing, including tissue transglutaminase (TTG IgA), anti-endomysial (EMA IgA), and deamidated gliadin (DGP) antibodies, as well as upper endoscopy with biopsy findings of villous blunting, villous atrophy, or crypt hyperplasia [1, 2]

  • Children with initially potential celiac disease who progressed to celiac disease were referred for celiac evaluation predominantly for other autoimmune conditions, trisomy 21, and symptoms consistent with celiac disease including abdominal pain, constipation, diarrhea, and poor growth

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Summary

Introduction

Celiac disease is an autoimmune enteropathy triggered by gluten and its related proteins found in wheat, rye, and barley. A subset of patients in the population have positive celiac serology, but have normal duodenal villous architecture on endoscopy [3, 4]. This situation has been termed potential celiac disease [3,4,5]. Of particular interest, are the patients with positive serology and an initially normal biopsy, who develop villous atrophy on a subsequent biopsy. A subset of patients with serology suggesting celiac disease have an initially negative biopsy but subsequently develop histopathologic celiac disease. We characterize patients with potential celiac disease who progress to celiac disease

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