FAMILIAL HYPERPARATHYROIDISM WITHOUT MULTIPLE ENDOCRINE NEOPLASIA

Hyperparathyroidism occurs sporadically, in association with multiple endocrine neoplasia (MEN) types I and II, or rarely as familial hyperp arathyroidism (FHPT) without other manifestations. We analyzed our exp erience in 16 FHPT patients from 14 families treated between 1934 and 1991 and reviewed 51 other FHPT patients reported in the literature to determine the clinical course of these patients. Among our 16 patient s, 7 (44%) had a serum calcium level greater than or equal to 3.75 mmo l/L, 5 (31%) presented with hypercalcemic crisis, 3 (19%) had osteitis fibrosa cystica, 5 (31%) had nephrolithiasis, 1 had pancreatitis, 12 (75%) had multiple abnormal parathyroid glands, 3 (19%) had supernumer ary glands, and 7 (44%) required reoperation for persistent (n = 4) or recurrent (n = 3) hyperparathyroidism. Three patients (19%) also had papillary thyroid cancer, and 7 (44%) had other coexistent thyroid dis orders. Among 51 patients with FHPT reported in the literature, 23 (45 %) had serum calcium greater than or equal to 3.75 mmol/L, and 23 (45% ) had multiple abnormal parathyroid glands; 10 (20%) had recurrent hyp erparathyroidism. FHPT without other endocrinopathies is a distinct en tity. Patients with FHPT have multiple abnormal parathyroid glands and are prone to both recurrent and persistent hyperparathyroidism, They frequently present with profound hypercalcemia or hypercalcemic crisis , in contrast to patients with MEN-associated hyperparathyroidism or s poradic hyperparathyroidism.