Cynthia M. Kroning

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

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.

Clinical Outcomes of HLA-DPB1 Mismatches in 10/10 HLA-Matched Unrelated Donor-Recipient Pairs Undergoing Allogeneic Stem Cell Transplant

HLA‐DPB1 matching may impact allogeneic hematopoietic stem cell transplantation (ASCT) outcomes; however, this locus is not in linkage disequilibrium with the remainder of the HLA genes. After classifying HLA‐DPB1 mismatches based on T‐cell epitope, avoiding non‐permissive mismatches may impact survival. We tested this hypothesis at a single academic institution.