title: [Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].
abstract: OBJECTIVE
  The challenge in diagnosing primary hyperparathyroidism (HPT) is to detect hereditary cases before first surgery. About 5% of cases are hereditary and integral component of multiple endocrine neoplasia type 1 and 2 (MEN1/MEN2), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), and familial isolated hyperparathyroidism (FIHPT). Aim of this study was to evaluate similarities and differences in hereditary varieties of HPT.
  
  
  METHODS
  80 patients with hereditary HPT were evaluated in a retrospective analysis between 1980 and 2010 concerning clinical findings, family history, therapy, biochemical and molecular-genetic findings and follow-up.
  
  
  RESULTS
  80 patients with hereditary HPT are described, 52 belonged to MEN1, 15 to MEN2, 7 to HPT-JT, 4 to FHH and 2 to FIHPT kindreds. Penetrance of HPT was highest in MEN1 (85%), followed by HPT-JT (64%), FHH (28.5%), and MEN2 (8%). Youngest age at diagnosis of HPT was 7 and 16 years in the MEN2/HPT-JT group. Serum Calcium was highest in the HPT-JT group (3.6 mM), recurrencies of HPT were highest in the MEN1 group (40.5%). Parathyroid cancer solely occurred in the HPT-JT group. In single cases HPT occurs in FHH.
  
  
  CONCLUSIONS
  Among the different varieties of hereditary HPT MEN1-HPT is most frequent and carries the utmost recurrence rate. Early diagnosis of HPT-JT syndrome is important because of the occurrence of parathyroid cancer. Single cases of HPT in FHH are described. Preoperative diagnosis of hereditary HPT has therapeutic consequences concerning extent of surgery and implications concerning patient and family care.
authors.affiliation: Endokrinologische Gemeinschaftspraxis und molekulargenetisches Labor, Heidelberg. karin.frankraue@raue-endokrinologie.de
authors.forename: K
authors.initials: K
authors.lastname: Frank-Raue
authors.forename: G
authors.initials: G
authors.lastname: Leidig-Bruckner
authors.forename: A
authors.initials: A
authors.lastname: Lorenz
authors.forename: S
authors.initials: S
authors.lastname: Rondot
authors.forename: C
authors.initials: C
authors.lastname: Haag
authors.forename: E
authors.initials: E
authors.lastname: Schulze
authors.forename: M
authors.initials: M
authors.lastname: Büchler
authors.forename: F
authors.initials: F
authors.lastname: Raue
mesh_terms: D000236:Adenoma / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D002118:Calcium / Q000097:blood; D002675:Child, Preschool; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D042241:Early Diagnosis; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D006934:Hypercalcemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis / Q000235:genetics*; D007573:Jaw Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics*; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics; D019683:Penetrance; D012008:Recurrence; D012189:Retrospective Studies; D013577:Syndrome; D055815:Young Adult
chemical_list: D002118:Calcium