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Familial hypocalciuric hypercalcemia


Other Names for this Disease

  • Familial benign hypercalcemia
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Overview

Familial hypocalciuric hypercalcemia (FHH) is a benign, inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). Affected individuals usually do not have any signs or symptoms of the condition, and hypercalcemia is often diagnosed incidentally.[1] In some individuals, weakness, fatigue, thought disturbance, and/or excessive thirst (polydipsia) have been reported.[2] FHH is usually caused by mutations in the CASR gene, although abnormalities in other, unidentified genes have been documented. It is inherited in an autosomal dominant manner.[1] Treatment is typically considered unnecessary because it is a benign condition. FHH can be difficult to distinguish from primary hyperparathyroidism, for which parathyroidectomy is typically performed; individuals with FHH are typically advised to avoid parathyroidectomy.[2]
Last updated: 9/23/2011

References

  1. A. Lienhardt-Roussie. Other search option(s)Alphabetical list . Orphanet. June 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=405. Accessed 9/22/2011.
  2. Varghese J, Rich T, Jimenez C. Benign Familial Hypocalciuric Hypercalcemia. Endocrine practice. March-April 2011; http://aace.metapress.com/content/f0r7q246g0h68761/fulltext.pdf. Accessed 9/23/2011.
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In Depth Information

  • 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. 
    Familial hypocalciuric hypercalcemia, type 1
    Familial hypocalciuric hypercalcemia, type 2
    Familial hypocalciuric hypercalcemia, type 3
  • 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 hypocalciuric hypercalcemia. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Familial benign hypercalcemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.