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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial isolated hyperparathyroidism


Other Names for this Disease

  • Familial primary hyperparathyroidism
  • FIHP
  • HRPT1
  • Hyperparathyroidism 1
  • Hyperparathyroidism, familial isolated primary
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Tests & Diagnosis

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How is familial isolated hyperparathyroidism diagnosed?

The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. FIHP may be the only feature of another condition that is not manifesting completely, or it may be a distinct condition due to mutations in genes that have not yet been identified. Clinical exams, laboratory tests, and histological (microscopic) findings are needed before making a diagnosis of FIHP.[1]

A diagnosis of FIHP may include the findings of:

In the majority of people with FIHP, genetic mutations are not found. However, in some people, mutations in
the MEN1, CASR, and CDC73 (HRPT2) genes have been reported. At this time, no gene has been associated exclusively with FIHP.[1]

Last updated: 12/23/2014

References
  1. Pontikides N, et. al. Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature. J Bone Miner Metab. July 2014; 32(4):351-366.


Other Names for this Disease
  • Familial primary hyperparathyroidism
  • FIHP
  • HRPT1
  • Hyperparathyroidism 1
  • Hyperparathyroidism, familial isolated primary
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.