Familial hypocalciuric hypercalcemia

Common Name(s)

Familial hypocalciuric hypercalcemia

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.  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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial hypocalciuric hypercalcemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial hypocalciuric hypercalcemia" returned 35 free, full-text research articles on human participants. First 3 results:

A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
 

Author(s): Marios Papadakis, Natalie Meurer, Theodora Margariti, Anke Meyer, Norbert Weyerbrock, Cornelia Dotzenrath

Journal: Hormones (Athens). 2016 Oct;15(4):557-559.

 

The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene.

Last Updated: 21 Feb 2017

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The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene.
 

Author(s): Niels Frederik Breum Jakobsen, Esben Laugesen, Lars Rolighed, Peter H Nissen, Per L√łgstrup Poulsen, Erling Bjerregaard Pedersen, Leif Mosekilde, Lars Rejnmark

Journal: Eur. J. Endocrinol.. 2016 Oct;175(4):299-309.

 

Loss-of-function variants in the gene encoding the calcium-sensing receptor (CASR) result in familial hypocalciuric hypercalcemia (FHH), causing hypercalcemia with high normal or elevated parathyroid hormone levels. The CASR may also influence electrolyte and water homeostasis. It ...

Last Updated: 19 Aug 2016

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Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.
 

Author(s): Anna Papadopoulou, Evangelia Gole, Katerina Melachroinou, Christos Meristoudis, Tania Siahanidou, Anastasios Papadimitriou

Journal: J Clin Res Pediatr Endocrinol. 2016 Sep;8(3):341-6.

 

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and ...

Last Updated: 9 Sep 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial hypocalciuric hypercalcemia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Studies of Inherited Diseases of Metabolism
 

Status: Recruiting

Condition Summary: Hypercalcemia; Hyperparathyroidism; Multiple Endocrine Neoplasia

 

Last Updated: 18 Oct 2017

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