Familial hyperparathyroidism

Hiroshi Takami, S. Shirahama, Y. Ikeda, Y. Sasaki, N. Wada, M. Niimi, K. Kameyama

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


Familial hyperparathyroidism (HPT) is a hereditary disease in which HPT is transmitted in an autosomal dominant fashion. It includes a variety of diseases: multiple endocrine neoplasia (MEN) type 1 and type 2, and familial isolated hyperparathyroidism (FIHPT). We screened for MEN 1 mutations by direct nucleotide sequencing of all protein-coding regions and identified the germline mutations of the MEN 1 gene in two families with familial HPT. Patients with FIHPT have multiple abnormal parathyroid glands and are prone to both recurrent and persistent HPT. They frequently present with profound hypercalcemia, in contrast to patients with MEN-associated HPT or sporadic HPT. We recommend subtotal or total parathyroidectomy plus autotransplantation in patients with MEN-associated HPT and patients with FIHPT. Because parathyroid remains or supernumerary glands are often present in the thymus or perithymic tissue, we advocate routine bilateral dissection of the central zone with bilateral cervical thymectomy. (C) 2000 Editions scientifiques et medicales Elsevier SAS.

Original languageEnglish
Pages (from-to)21s-24s
JournalBiomedicine and Pharmacotherapy
Issue numberSUPPL. 1
Publication statusPublished - 2000 Jun


  • Familial hyperparathyroidism
  • Familial isolated hyperparathyroidism
  • Multiple endocrine neoplasia

ASJC Scopus subject areas

  • Pharmacology


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