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Familial hypocalciuric hypercalcemia
Other Names for this Disease
- Familial benign hypercalcemia
- Familial hypocalciuric hypercalcemia type 1
- Familial hypocalciuric hypercalcemia type 2
- Familial hypocalciuric hypercalcemia type 3
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 In some individuals, weakness, fatigue, thought disturbance, and/or excessive thirst (polydipsia) have been reported. 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. 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.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.
Last updated: 9/23/2011
- 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.
- 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.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of familial hypocalciuric hypercalcemia. Click on the links below to go to OMIM and review these resources.
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
- Varghese J, Rich T, Jimenez C. Benign familial hypocalciuric hypercalcemia. Endocr Pract. 2011 Mar-Apr;17 Suppl 1:13-7.