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Comorbidities in Childhood Celiac Disease: A Phenome Wide Association Study Using the Electronic Health Record

Ariana Prinzbach1, Soheil Moosavinasab2, Steve Rust2

  • 1The Ohio State University College of Medicine, The Ohio State University.

Journal of Pediatric Gastroenterology and Nutrition
|May 11, 2018
PubMed

Insights

This study used electronic health records to identify new symptoms and conditions associated with celiac disease (CD) in children. Researchers found a significant link between CD and eosinophilic disorders of the esophagus.

Area of Science:

  • Pediatric autoimmune diseases
  • Gastroenterology and clinical immunology
  • Electronic health record (EHR) research methodology

Background:

  • Celiac disease (CD) presents with various extraintestinal autoimmune and inflammatory conditions.
  • Understanding these comorbidities is crucial for early CD identification and preventing long-term complications.
  • Characterizing the full clinical spectrum of CD aids in diagnosis and management.

Purpose of the Study:

  • To confirm known comorbidities of celiac disease (CD) in children.
  • To discover novel associations and enhance the clinical presentation characterization of CD.
  • To leverage an electronic health record (EHR)-based Phenome Wide Association Study (PheWAS) for unbiased discovery.

Main Methods:

  • Utilized Nationwide Children's Hospital EHR data for 433 confirmed CD cases and 4330 matched controls.
  • Employed an EHR-based PheWAS method to screen International Classification of Diseases, 10th revision (ICD-10) codes for associations with CD.
  • Performed Fisher's Exact tests for statistical significance and validated 14 previously identified CD comorbidities.

Main Results:

  • Identified 45 ICD-10 codes significantly associated with CD, including 13 known comorbidities and 9 expected symptoms.
  • Confirmed a significant association between celiac disease and eosinophilic disorders of the esophagus.
  • Found that 8 out of 14 previously identified comorbidities were significantly associated with CD.

Conclusions:

  • EHR-based PheWAS is an effective, efficient, and cost-effective tool for identifying and validating CD comorbidities.
  • This study is the first PheWAS to confirm a significant association between eosinophilic esophagitis and celiac disease in a controlled setting.
  • The findings enhance the understanding of CD's clinical presentation and associated conditions in pediatric populations.
Abstract

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