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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial isolated hyperparathyroidism


Other Names for this Disease
  • Familial primary hyperparathyroidism
  • FIHP
  • HRPT1
  • Hyperparathyroidism 1
  • Hyperparathyroidism, familial isolated primary
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Overview

Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features.[1] The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes.[2] Treatment for FIHP often includes surgical removal of the affected gland(s).[3]
Last updated: 12/22/2014

References

  1. Thereasa A Rich, Mimi I Hu, Jack W Martin, Nancy D Perrier, and Steven G Waguespack. CDC73-Related Disorders. GeneReviews. May 24, 2012; http://www.ncbi.nlm.nih.gov/books/NBK3789/. Accessed 12/22/2014.
  2. Familial isolated hyperparathyroidism. Genetics Home Reference. August, 2012; http://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism. Accessed 12/22/2014.
  3. Lawrence Kim. Hyperparathyroidism. Medscape. April 28, 2014; http://emedicine.medscape.com/article/127351-overview#aw2aab6b4. Accessed 12/22/2014.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial isolated hyperparathyroidism. Click on the link to view a sample search on this topic.
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.