title: Is familial hyperparathyroidism a unique disease?
abstract: BACKGROUND
  Familial hyperparathyroidism is a rare condition reported to behave more aggressively than sporadic hyperparathyroidism.
  
  
  METHODS
  A retrospective (1975 to 1995) analysis was performed on 30 such patients. All patients had at least one first-degree relative with surgically treated hyperparathyroidism and no personal or family history of multiple endocrine neoplasia.
  
  
  RESULTS
  There were 19 women and 11 men with a mean age of 39 years (range, 13 to 78 years). Fourteen patients (47%) had nephrolithiasis. The mean serum calcium level was 11.6 mg/dl (range, 10.5 to 15.3 mg/dl). Twenty-three primary and 15 repeat explorations (eight recurrent and seven persistent disease) were performed during the study period. Follow-up was obtained on all patients and ranged from 1 to 21 years (mean, 12 years). At the conclusion of the study, hypercalcemia (five recurrent and one persistent) was present in six patients (20%).
  
  
  CONCLUSIONS
  Familial hyperparathyroidism is a distinct and unique entity. Patients are diagnosed at a young age and have a high incidence of nephrolithiasis. Long-term follow-up is mandatory because of the high incidence of both recurrent and persistent hyperparathyroidism. Surgical treatment should include subtotal parathyroidectomy and routine transcervical thymectomy performed in centers with experience in the management of multiple-gland parathyroid disease.
authors.affiliation: Department of Gastroenterologic and General Surgery, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: M K
authors.initials: MK
authors.lastname: Barry
authors.forename: J A
authors.initials: JA
authors.lastname: van Heerden
authors.forename: C S
authors.initials: CS
authors.lastname: Grant
authors.forename: G B
authors.initials: GB
authors.lastname: Thompson
authors.forename: S
authors.initials: S
authors.lastname: Khosla
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D008297:Male; D008875:Middle Aged