HLA coeliac haplotypes and Primary Autoimmune Hypophysitis in Caucasian patients

Summary

Purpose

Primary hypophysitis is a rare disease, with an autoimmune etiology. As few papers have investigated its genetic, our aim was to evaluate HLA status in a single-center series of patients.

Patients and method

A retrospective, longitudinal and cross-sectional study was conducted. Consecutive Caucasian patients, with clinical or histological diagnosis of primary autoimmune hypophysitis (PAH), the HLA genotype having been determined, anti-pituitary and anti-hypothalamus auto-antibodies were included. This cohort was compared with a control group.

Results

16 patients were enrolled. Fourteen patients were female (87.5%). According to HLA-DR status, we found the following 9 out of 16 patients (56.3%) haplotypes that were associated to celiac disease (CD). Among these, 5 carried the DR7-DQ2 heterozygote haplotype (55.5%) while the remaining ones only the following haplotypes: DR3-DQ2 homozygote (25%), DR4-DQ2 heterozygote (25%), DR4-DQ8 heterozygote (50%), DR4-DQ8 homozygote (25%), respectively. A total of 12 CD-associated haplotypes were identified. In PAH, we found a significantly higher frequency of patients carrying CD-associated HLA-haplotypes as compared to the control group (respectively 75% vs 48% p=0.03; OR: 3.25 95%IC:1.1-10.3), particularly, for DQ2 and DQ8 haplotypes. DQ2 haplotype was detected in 50% of PAH and 38.4% of the control group (p=0.3), while DQ8 haplotype in 25% of PAH and 7.2% of the control group (p=0.01 OR:4.3 95%IC:1.3-14.7).

Conclusion

Our data suggest that PAH and CD share some HLA haplotypes, reinforcing the knowledge of their association. HLA haplotypes, particularly DQ8, may play a role in PAH management and diagnosis, also suggesting the predisposition to other autoimmune diseases.

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