High-resolution parathyroid ultrasonography in familial benign hypercalcemia (familial hypocalciuric hypercalcemia)

Familial benign hypercalcemia, or familial hypocalciuric hypercalcemia (FHH), is frequently confused with primary hyperparathyroidism, but the consistent failure of subtotal parathyroidectomy to normalize serum calcium levels in FHH makes accurate distinction from familial hyperparathyroidism imperative. Because ultrasonography frequently demonstrates enlargement of the parathyroid glands in hyperparathyroidism, we examined 14 hypercalcemic adults (who had not undergone operation) from seven kindreds with FHH by using a high-resolution real-time scanner. We compared our results with those from 156 patients (who had undergone scanning preoperatively) with surgically confirmed hyperparathyroidism. Enlargement of the parathyroid glands was detected ultrasonographically in 137 of 156 (88%) of the total group of patients with hyperparathyroidism and in 17 of 24 patients (71%) with hyperparathyroidism who had hypercalcemia (serum calcium, 10.6 to 11.0 mg/dl) comparable to that of the FHH group (mean value, 10.7 mg/dl). In contrast, the single possible parathyroid lesion seen in the FHH group was substantially smaller (4 mm) than the smallest (7 mm, 75 mg) abnormal gland reliably detected by ultrasonography in the group with hyperparathyroidism and was conceivably normal in size. Patients with FHH have a dramatic absence of ultrasonographic parathyroid enlargement. High-resolution parathyroid ultrasonography may be of ancillary diagnostic benefit in patients with familial hypercalcemia.