Human leukocyte antigen genetics and clinical features of self-treated patients on a gluten-free diet

John A. Coburn, Jennifer L. Vande Voort, Brian D. Lahr, Carol T. Van Dyke, Cynthia M. Kroning, Tsung Teh Wu, Manish J. Gandhi, Joseph A. Murray

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


BACKGROUND AND AIMS:: Increasingly, people start a gluten-free diet (GFD) without a clear celiac disease (CD) diagnosis. Human leukocyte antigen (HLA) genotyping is useful in ruling out CD in patients with equivocal results of serologic testing or small-bowel biopsy (SBB), but its utility and the clinical features of patients on self-treated GFD (ST-GFD) are largely unknown. METHODS:: Retrospective study of single tertiary care center cohort compared 137 patients on ST-GFD and 443 patients with well-defined CD. We compared HLA genotype, symptoms, serologic and SBB results, and response to GFD between the 2 groups. Analysis used univariate logistic regression modeling, adjusted for age and sex. RESULTS:: Patients with ST-GFD presented more often with diarrhea (P<0.001), abdominal distention (P<0.001), flatulence (P=0.002), cramping (P=0.02), itchy skin (P=0.02), oral inflammation (P=0.04), and constipation (P=0.01) and less often with anemia (P<0.001) or malaise (P=0.02) than CD patients. In addition, 41% did not carry DQ2.5 and DQ8 versus 6% of CD patients (P<0.001). Only 2% of ST-GFD patients had SBB clearly consistent with CD. Family history of CD showed no difference between groups (P=0.77). Although CD patients had a statistically higher rate of GFD benefit, both groups had a high responsiveness rate (98% vs. 94%; P=0.03). CONCLUSIONS:: HLA genotyping is useful in evaluating patients on an ST-GFD. Although confirmed CD is rare in self-treated patients, most still report benefit from GFD regardless of DQ2 and DQ8 status. Nonceliac gluten sensitivity may play a role.

Original languageEnglish (US)
Pages (from-to)828-833
Number of pages6
JournalJournal of clinical gastroenterology
Issue number10
StatePublished - Nov 2013


  • celiac disease
  • diet
  • food intolerance
  • gluten-sensitive enteropathy

ASJC Scopus subject areas

  • Gastroenterology


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