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MON-770 Osteitis Fibrosa Cystica Masked as Sickle Cell Crisis: A Diagnostic Challenge in a Patient with Uncontrolled Bone Pain

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Abstract Disclosure: N. Sweis: None. M. Longi: None. F.U. Njoku: None. R.M. Sargis: None. J.L. Zapater: None. Introduction: Osteitis fibrosa cystica (OFC) is a severe form of renal osteodystrophy resulting from secondary hyperparathyroidism, commonly seen in patients with end-stage renal disease (ESRD). This case illustrates the diagnostic complexity when OFC is masked by concurrent sickle cell disease, which can present with similar pain crises. Case Presentation: A 29-year-old male with sickle cell disease and ESRD on hemodialysis presented with a two-year history of persistent diffuse bone pain requiring frequent hospitalizations. While this was initially attributed to vaso-occlusive crises, his hemoglobin fractionation revealed 96% hemoglobin A and 1% hemoglobin S due to receiving frequent blood transfusions, making this etiology unlikely. Physical exam showed prominent cheekbones, a flattened nasal bridge, widened nostrils and interdental spacing. Labs indicated severe secondary hyperparathyroidism: PTH 2,812 pg/mL, calcium 8.4 mg/dL, vitamin D 15 ng/mL, and alkaline phosphatase 1,839 U/L. Despite being on a regimen of cinacalcet 180 mg daily, calcitriol 0.5 mcg daily, calcium carbonate 2,000 mg TID, and ergocalciferol 50,000 IU weekly, his hyperparathyroidism remained refractory. Cinacalcet was discontinued due to intolerance. Multidisciplinary consultation led to 3.5-gland parathyroidectomy. Postoperatively, he required an intravenous calcium infusion and up to calcium carbonate 5,000 mg TID, and calcitriol 2 mcg BID to manage hungry bone syndrome and maintain serum calcium of 8.0-8.5 mg/dL. His regimen was later transitioned to calcitriol 1 mcg BID, calcium carbonate 2,000 mg TID, Nepro dietary supplements TID, and ergocalciferol 50,000 IU weekly. His course was uncomplicated, and he reported resolution of bone pain for the first time in two years. Discussion: This case highlights how fragmented care in the setting of frequent hospitalizations for acute pain crises has masked the chronic sequelae of this patient’s secondary hyperparathyroidism, culminating in OFC. In this patient’s case, this unfortunately resulted in significant morbidity, including skeletal deformities, chronic pain, and increased fracture risk. Guided by KDIGO guidelines, parathyroidectomy was pursued for refractory secondary hyperparathyroidism unresponsive to optimized medical therapy, with perioperative calcium and calcitriol supplementation preventing complications and resolving his debilitating bone pain, significantly improving his quality of life. Conclusion: This case highlights the need for a high-index of suspicion when it comes to persistent bone pain in patients with hyperparathyroidism. This is especially important when other comorbidities are present which may mask the origin of the pain, including sickle cell disease. Early recognition and surgical intervention can significantly improve patient outcomes. Presentation: Monday, July 14, 2025

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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
MON-770 Osteitis Fibrosa Cystica Masked as Sickle Cell Crisis: A Diagnostic Challenge in a Patient with Uncontrolled Bone Pain
Date Crossref
01/10/2025
Éditeur
The Endocrine Society
Type
journal-article

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Sujets associés

Bone and Joint DiseasesBone health and treatmentsHemoglobinopathies and Related Disorders

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