Amyloid Here, Amyloid There, Amyloid Everywhere! Primary Adrenal Insufficiency Due to Systemic Amyloidosis

Presentation Number: SAT-0774
Date of Presentation: June 21st, 2014

Vishnu Sundaresh*1, Kartik Anand2, Tania Rowland3, Michael Constantinescu3 and Sherry Lynn Ryan3
1Louisiana State University Health Sciences Center, Shreveport, LA, 2Louisiana State University health Sciences Center, Shreveport, LA, 3Overton Brooks VA Med Ctr, Shreveport, LA

Abstract

Amyloidosis refers to the extracellular deposition of insoluble proteinaceous material affecting multiple organs in its systemic form. Endocrine involvement is infrequent with endocrine dysfunction being extremely rare. We report a case of Systemic Amyloidosis (SA) presenting with primary adrenal insufficiency (PAI) with poly-endocrine gland involvement.

A 63-year-old white male presented with a 3-month history of recurrent episodes of dizziness and syncope. He had cold sensations in the extremities, decreased libido, erectile dysfunction, dysphagia, early satiety, and unintentional 90-pound weight loss pounds in two years. Medical history included papillary thyroid cancer treated with total thyroidectomy and I-131 ablation, autoimmune and post-surgical hypothyroidism, focal gastric amyloidosis secondary to h. Pylori gastritis, and stage 3 kidney disease of unknown etiology. Exam revealed supine hypertension, orthostatic hypotension with inappropriate heart rate response and peripheral sensory neuropathy. Sodium was 133 mmol/L (136–145), potassium 3.8 mmol/L (3.3-5.1), and creatinine 1.8 mg/dL (0.6-1.3). EKG had low voltage complexes with fixed R-R interval. 2D ECHO showed normal systolic function with impaired diastolic relaxation. Gastric emptying study showed severe gastroparesis with T 1/2 855 minutes (normal <110). No obstruction was seen on EGD. A 250-µg cosyntropin stimulation test revealed baseline, 30- and 60-minute cortisol levels of 9.7, 20, and 21 µg/dL (AM 6.7-22.6 ug/dL), respectively. ACTH was 42 pg/mL (7.2-63.3), DHEA-S 38.9 µg/dL (48.9-344.2), aldosterone <1 ng/dL (0.0-30), and renin < 0.16 ng/ml/hr. (1.31-3.95 upright).  LH was 2.1 mIU/ml (1.2-8.6), FSH-7.7mIU/ml (1.3-19.3) and total testosterone was 1.1 (1.8-7.8). Repeat testing showed baseline cortisol of 15.9 which stimulated to 17.5 with a baseline ACTH of 14.7. Non-contrast CT of the adrenals and pituitary were normal. Free Lambda light chains were abnormally detected in both serum and urine along with nephrotic range proteinuria. Serum immunoelectrophoresis was normal with an absent M spike. Bone marrow biopsy revealed 4.6% plasma cells. 18-F PET scan ruled out a plasmacytoma. On careful re-examination of biopsies of the stomach, duodenum, bone marrow and previously excised thyroid tissue, all exhibited Congo red staining and apple green birefringence within small vessel walls, confirming SA. Mayo classification was stage II, AL type. Treatment with hydrocortisone and fludrocortisone for presumed PAI due to amyloid infiltration of the adrenals resulted in significant clinical improvement. He is currently receiving chemotherapy in preparation for autologous stem cell transplantation. 

Endocrine dysfunction secondary to SA is rare, with subtle presentation. Investigating glandular function may avoid potentially life-threatening consequences of glandular failure.

 

Nothing to Disclose: VS, KA, TR, MC, SLR