HLA Markers DQ8 and DR53 are associated with lymphoctic hypophysistis and may aid in differential diagnosis.

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HLA Markers DQ8 and DR53 are associated with lymphoctic hypophysistis and may aid in differential diagnosis.

J Clin Endocrinol Metab. 2015 Aug 28;:jc20152702

Authors: Heaney AP, Sumerel B, Rajalingam R, Bergsneider M, Yong W, Liau LM

IMPORTANCE: Lymphocytic hypophysitis (LH) is a poorly understood autoimmune disorder of the pituitary gland. Symptoms include headache, pituitary dysfunction, visual disturbances and neurological deficits. The diagnosis can be made based on clinical and biochemical findings but for atypical presentations, no circulatory diagnostic biomarkers exist and pituitary biopsy is necessary for diagnosis.
OBJECTIVES: We used high-resolution human leukocyte antigen (HLA) screening assays to investigate for a relationship between specific HLA markers and lymphocytic hypophysitis.
DESIGN: This was a retrospective analysis Setting: The study was conducted at a tertiary referral center.
SUBJECTS: Fifteen patients with sporadic LH and 4 melanoma patients who developed hypophysitis following administration of CTLA4 antibodies and one patient with sarcoid-associated hypophysitis were evaluated.
INTERVENTION: Clinical data including endocrine function, were assessed and HLA typing performed in all 20 patients with hypophysitis, 50 control patients with other sellar abnormalities and 4 CTLA4 antibody-treated patients without hypophysitis.
RESULTS: Two major histocompatibility class II HLA markers, DQ8 and DR53, were found in 13/15 (87%) and 12/15 (80.0%) patients with sporadic lymphocytic hypophysitis respectively. In contrast, none of 4 patients who developed hypophysitis after administration of the CTLA4 antibodies exhibited the HLA-DQ8 marker and only 1/ 4(25%) exhibited the HLA-DR53 marker. In a parallel group of 50 control subjects with sellar masses and 4 CTLA4-Ab treated patients who did not develop evidence of pituitary failure, the candidate HLA subtypes were found in ∼20% for DQ8 and ∼48% for DR53 respectively.
CONCLUSION: & Relevance: The HLA markers, DQ8 and DR53, were found to be commonly present in patients with LH. The odds ratio of a patient with LH expressing the HLA-DQ8 marker is 23.1-fold higher compared to a patient with another sellar mass. HLA-DQ8 testing may assist in diagnosis and avoid unnecessary biopsy in atypical LH cases.

PMID: 26317559 [PubMed - as supplied by publisher]