title: Familial hyperparathyroidism without multiple endocrine neoplasia.
abstract: Hyperparathyroidism occurs sporadically, in association with multiple endocrine neoplasia (MEN) types I and II, or rarely as familial hyperparathyroidism (FHPT) without other manifestations. We analyzed our experience 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 patients, 7 (44%) had a serum calcium level >/= 3.75 mmol/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 supernumerary 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 disorders. Among 51 patients with FHPT reported in the literature, 23 (45%) had serum calcium >/= 3.75 mmol/L, and 23 (45%) had multiple abnormal parathyroid glands; 10 (20%) had recurrent hyperparathyroidism. FHPT without other endocrinopathies is a distinct entity. 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 sporadic hyperparathyroidism.
authors.affiliation: Department of Surgery, University of California San Francisco/Mount Zion, 1600 Divisadero Street, Room C342, San Francisco, California 94115, USA.
authors.forename: S M
authors.initials: SM
authors.lastname: Huang
authors.forename: Q Y
authors.initials: QY
authors.lastname: Duh
authors.forename: J
authors.initials: J
authors.lastname: Shaver
authors.forename: A E
authors.initials: AE
authors.lastname: Siperstein
authors.forename: J L
authors.initials: JL
authors.lastname: Kraimps
authors.forename: O H
authors.initials: OH
authors.lastname: Clark
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia; D011379:Prognosis; D012008:Recurrence; D013959:Thyroid Diseases / Q000150:complications