Endocrinology Fellow University of Florida Newberry, Florida, United States
Introduction : Renal osteodystrophy is a common complication of chronic renal failure due to secondary hyperparathyroidism, but it is rare that the bony changes cause a severe progressive overgrowth of the bones of the face or uremic leontiasis ossea. We report a severe case of uremic leontiasis ossea leading to facial deformity due to resistant hyperparathyroidism.
Case(s) Description : A 48-year-old female with a history of hypertension, coronary arterial disease, end-stage renal disease presented with severe secondary hyperparathyroidism and calciphylaxis. She reported experiencing facial bony changes in the last 3 months which interfered with her ability to eat and to speak. Physical examination revealed a prominent upper jaw and hard palate, widely spaced teeth, and calcinosis cutis. Despite intermittent use of cinacalcet and phosphate binders, her PTH stayed elevated as high as 4429 pg/ml (PTH reference range 12-88 pg/ml) while she had normal calcium, mildly elevated phosphorus, low vitamin D, and increased ALP. Ultrasound and CT neck imaging confirmed parathyroid adenomas and extensive bone changes more prominently on the skull and maxilla. The patient had multiple hospitalizations due to vascular complications, including cardiac issues due to severe calciphylaxis causing multi-vessel disease. Despite her high surgical risk, due to the extension of the disease interfering with her daily life, a multi-disciplinary approach was planned for a 3.5 gland parathyroidectomy with post-operative monitoring due to the risk of hungry bone syndrome.
Discussion : Hyperphosphatemia, hypocalcemia, and elevated PTH in the setting of advanced CKD lead to disruption of bone mineralization. Uremic leontiasis ossea, the most severe form of renal osteodystrophy, results in abnormal facial bony changes. It carries the risk of significant comorbidities due to cranial nerve compression, respiratory compromise, dysarthria, and dysphagia. Patients frequently exhibit coronary and cerebral arterial calcifications, further elevating the risk for myocardial infarction and stroke. 3.5 gland parathyroidectomy is recommended to prevent further progression of bony enlargement. Unfortunately, regression of bone changes typically does not occur. Given the availability of calcimimetics and vitamin D analogs, severe bony deformities from secondary hyperparathyroidism are now rare. It is of utmost importance to adhere to guideline-specified PTH targets in CKD to prevent patient harm from permanent physical deformities.
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