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Abstract: PO0568

Painful Facial Swelling in a 33-Year-Old Male with ESRD: Sagliker Syndrome with 2-Year Follow-Up

Session Information

Category: Bone and Mineral Metabolism

  • 402 Bone and Mineral Metabolism: Clinical

Authors

  • Gaulden, Hannah, Medical University of South Carolina, Charleston, South Carolina, United States
  • Schumacher, Daniel, Medical University of South Carolina, Charleston, South Carolina, United States
  • Singh, Manasi, Medical University of South Carolina, Charleston, South Carolina, United States
  • Fulop, Tibor, Medical University of South Carolina, Charleston, South Carolina, United States
  • McMahon, Blaithin A., Medical University of South Carolina, Charleston, South Carolina, United States
Introduction

Sagliker syndrome is a rare form of renal osteodystrophy seen in the setting of hyperparathyroidism. Disordered skeletal remodeling resulting in severe facial changes and possible psychological changes are seen

Case Description

We present a case of a 33 year-old African American male with end-stage renal disease on maintenance hemodialysis x3/week for 7 years and systemic lupus erythematosus on adalimumab, who presented with sudden onset severe facial swelling and pain. He has a history of tertiary hyperparathyroidism with intact parathyroid hormone level of 2,400 – 4,000 pg/mL (normal: 18.4 - 88.0 pg/mL). Cinacalcet (30 mg) dosing was inconsistent due to insurance difficulties. Laboratory studies showed a corrected serum calcium of 7.9 mg/dL, serum 25-hydroxy-vitamin D of 9.8 ng/mL (25.00 - 80.00 ng/ml), serum phosphorus of 5.9 mg/dL, intact parathyroid hormone of 1,206 pg/mL and alkaline phosphatase 427 U/L (35-150) with normal liver enzymes. The patient had severe facial pain, maxillary and mandibular enlargement with hypertrophic gums and widely-spaced teeth. Extensive brown tumor formation was detected with marked extension into the buccal spaces. Altogether, his presentation was consistent with an unsually severe Sagliker syndrome. Urgent subtotal parathyroidectomy was performed with immediate normalization of PTH (170, 75 pg/mL), but with subsequent severe postoperative hungry bone syndrome and a prolonged period of excessive calcitriol and calcium supplementation. At 2 year follow-up laboratory studies revealed corrected serum calcium of 7.5 mg/dL, serum phosphorus of 6.2 mg/dL, and intact parathyroid hormone of 36 pg/mL. While his facial abnormalities and pain improved, severe mandibular swelling persisted

Discussion

Genetic predisposition may be related to target exons of calcium-sensing receptors. Low vitamin D levels are thought to play a role in susceptible patients. Our case presents a rare documented long-term outcome for severe Sagliker syndrome. Furthermore, we are reviewing initial and follow-up pictures, with review of biochemical control and vitamin-D requirements over this period.