title: Human leukocyte antigen genetics and clinical features of self-treated patients on a gluten-free diet.
abstract: OBJECTIVE
  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.
authors: *Mayo Medical School, College of Medicine †Department of Psychiatry and Psychology ‡Division of Biostatistics and Informatics §Division of Gastroenterology and Hepatology ∥Division of Transfusion Medicine ¶Division of Anatomic Pathology #Department of Immunology, Mayo Clinic, Rochester, MN.
authors: John A
authors: JA
authors: Coburn
authors: Jennifer L
authors: JL
authors: Vande Voort
authors: Brian D
authors: BD
authors: Lahr
authors: Carol T
authors: CT
authors: Van Dyke
authors: Cynthia M
authors: CM
authors: Kroning
authors: Tsung-Teh
authors: TT
authors: Wu
authors: Manish J
authors: MJ
authors: Gandhi
authors: Joseph A
authors: JA
authors: Murray
mesh_terms: D000328:Adult; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics; D015331:Cohort Studies; D055050:Diet, Gluten-Free; D005260:Female; D005838:Genotype; D005983:Glutens / Q000009:adverse effects*; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D007421:Intestine, Small / Q000473:pathology; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies
chemical_list: D006683:HLA-DQ Antigens; C053186:HLA-DQ2 antigen; C109756:HLA-DQ8 antigen; D005983:Glutens
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