OR21-1 HLA markers, DQ8 and DRw53, Associate with Lymphocytic Hypophysitis and May Aid Diagnosis

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: OR21-HPA Axis: New Clinical Developments
Clinical
Sunday, June 16, 2013: 11:15 AM-12:45 PM
Presentation Start Time: 11:15 AM
Room 134 (Moscone Center)
Anthony P Heaney*1, Marvin Bergsneider2, Brittany Sumerel3 and Linda Liau2
1UCLA-David Geffen Schl of Med, Los Angeles, CA, 2UCLA David Geffen School of Medicine, Los Angeles, 3UCLA Medical Center, Los Angeles
Introduction: Lymphocytic hypophysitis (LH) is a rare and poorly understood autoimmune disorder of the pituitary gland with an incidence of one in nine million per year. Symptoms include headache, variable degrees of hypopituitarism, hyperprolactinemia, visual disturbances, and occasionally neurological defects. The clinical course of LH varies greatly between patients and immunosuppressive therapy with steroids or azathioprine are the mainstay treatments. The diagnosis can often be made based on clinical presentation and biochemical findings. Not infrequently however, presentation and sellar imaging appearances may be atypical and pituitary biopsy may be necessary to provide a definitive diagnosis. Given the underlying autoimmune etiology of LH, we used high-resolution human leukocyte antigen (HLA) screening assays to investigate for a possible relationship between specific HLAs and lymphocytic hypophysitis.

Methods: Here we describe three male and six female patients with presentation and clinical course consistent with a diagnosis of LH. In 5 of 9, the diagnosis of LH was subsequently confirmed by histopathological examination of resected sellar or suprasellar tissue.  Clinical data including endocrine function were assessed and HLA typing performed in the 9 patients with LH and an additional 15 patients with other sellar abnormalities.

Results: Two common major histocompatibility class II human leukocyte antigen (HLA) markers, DQ8 and DRw53, were found in all 9 patients with LH (either based on clinical presentation or confirmed by histopathology). Importantly, the HLA markers were negative in the 15 control patients with other sellar abnormalities.

Conclusion:  The HLA markers, DQ8 and DRw53, both associated with an increased incidence of autoimmune diseases, were found to be commonly present in patients with LH. Assessment of serum DQ8 and DRw53 HLA markers may provide a rapid way to assist in diagnosis of LH and potentially avoid unnecessary biopsy in atypical cases of LH.

Disclosure: APH: Medical Advisory Board Member, Novartis Pharmaceuticals, Medical Advisory Board Member, Ipsen. Nothing to Disclose: MB, BS, LL

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

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