(1.03) Cause or Coincidence? A Case of Primary Adrenal Insufficiency Diagnosed in a Female with Hemochromatosis

Primary adrenal insufficiency (PAI) is a rare clinical disorder with an insidious onset characterized by a decreased production of glucocorticoids and associated with potentially life-threatening complications. The clinical presentation is non-specific with features including fatigue, weight loss, hypoglycemia, muscle weakness and abdominal pain. Most cases are caused by autoimmune adrenalitis which can be isolated or occur as part of an autoimmune polyendocrinopathy syndrome. Other causes of PAI include adrenal hemorrhage, infiltrative disorders, metastasis, and infection. Hemochromatosis is an infiltrative disorder that may be associated with PAI, but its pathogenesis is not well understood.

Case(s) Description :

An 86-year-old female with chronic hemochromatosis on therapeutic phlebotomy, hypertension, and type 2 diabetes, was evaluated in the endocrinology clinic following an ED visit for weakness, dizziness, confusion, hypothermia and weight loss. She recently suffered a femur fracture requiring surgical repair. Her postoperative course was complicated by acute blood loss anemia from anticoagulation use, hypotension prompting reduction in antihypertensives, and abdominal wall cellulitis. Labs were notable for hyponatremia without hyperkalemia. PAI was suspected and later confirmed with an insufficient cortisol response to cosyntropin and elevated ACTH, though plasma renin activity was normal. 21 hydroxylase antibodies were negative. CT imaging at the time of her ED visit showed bilateral atrophy of the adrenal glands. This prompted retrospective review of imaging from her post-op period which showed new nonspecific thickening with central hyperenhancement of bilateral adrenal glands. She was treated with hydrocortisone with normalization of sodium and symptomatic improvement.  


Discussion : This case highlights the subtle onset and non-specific symptoms of PAI, as well as the consequence of delayed diagnosis when imaging findings are overlooked and risk factors go unrecognized, including hemochromatosis. Although considered a rare cause of PAI, it is possible that hemochromatosis led to an adrenal infiltrative process that prevailed during the patient’s hospitalization. Furthermore, the initial adrenal enlargement and subsequent atrophy noted on CT imaging suggests a possible diagnosis of adrenal hemorrhage from anticoagulation use which should have raised suspicion for PAI, along with other risk factors such as infection, hypotension, and hemochromatosis. Regardless of the cause, it is imperative to keep a high index of suspicion for PAI, particularly for patients displaying signs and symptoms in the setting of multiple risk factors.