69. Familial Primary Hyperparathyroidism (Including MEN, FHH, and HPT-JT)

  1. Clifford J. Rosen MD
  1. Andrew Arnold and
  2. Stephen J. Marx

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch69

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

How to Cite

Arnold, A. and Marx, S. J. (2013) Familial Primary Hyperparathyroidism (Including MEN, FHH, and HPT-JT), in Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition (ed C. J. Rosen), John Wiley & Sons, Inc., Ames, USA. doi: 10.1002/9781118453926.ch69

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

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Keywords:

  • familial (benign) hypocalciuric hypercalcemia (FHH);
  • familial primary hyperparathyroidism (1°HPT);
  • hyperparathyroidism-jaw tumor syndrome (HPT-JT);
  • multiple endocrine neoplasia (MEN);
  • neonatal severe primary hyperparathyroidism (NSHPT)

Summary

Persons with familial primary hyperparathyroidism (1°HPT), defined by the combination of hypercalcemia and elevated or nonsuppressed serum parathyroid hormone (PTH), are a small and important subgroup of all cases with 1°HPT (about 5%). Their familial syndromes include multiple endocrine neoplasia (MEN) [types 1, 2A, and 4], familial (benign) hypocalciuric hypercalcemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), hyperparathyroidism-jaw tumor syndrome (HPT-JT), and familial isolated primary hyperparathyroidism (FIHPT).

This chapter discusses the clinical expressions, pathogenesis, diagnosis, and management of these syndromes. Easy fatigue, weakness, thought disturbance, or polydipsia are less common and less severe than in typical 1°HPT. Most cases result from heterozygous inactivating mutation of the CASR gene, which encodes a calcium-sensing receptor (CaSR).