Primary adrenal insufficiency due to bilateral infiltrative disease

Evidence on clinical presentation, evaluation, and management of patients with primary adrenal insufficiency (PAI) due to bilateral adrenal infiltrative disease is scarce. Our objective was to review the clinical presentation, biochemical work-up, imaging findings, and management of patients with PAI due to infiltrative adrenal disease in order to determine the best diagnostic and management approach.

Retrospective study of patients with PAI due to bilateral infiltrative adrenal disease referred for adrenal biopsy during 2000-2014 at Mayo Clinic, Rochester, Minnesota. Two additional patients evaluated after 2014 were included.

Seven patients (six males and one female) were diagnosed with PAI caused by bilateral adrenal infiltrative disease at a median age of 54 (range 36-80) years. Duration of symptoms prior to the diagnosis of PAI and initiating treatment was 6 months (range 3 months-4 years). All patients demonstrated bilateral adrenal masses on adrenal imaging. The underlying diagnosis was confirmed by histopathology and included: bilateral adrenal metastases (lung and breast adenocarcinoma), diffuse large B-cell lymphoma, tuberculosis, cryptococcus, histoplasmosis, and, Erdheim-Chester disease.

In patients with newly diagnosed PAI, the differential diagnosis should include bilateral infiltrative adrenal disease, especially when testing for autoimmune adrenalitis is negative, or if there is clinical history suggesting another etiology. Patients who present with known bilateral adrenal infiltrative disease should be counseled and tested for PAI periodically, particularly if presenting with suggestive signs or symptoms.