Familial isolated hyperparathyroidism

Common Name(s)

Familial isolated hyperparathyroidism

Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. 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. Treatment for FIHP often includes surgical removal of the affected gland(s).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial isolated hyperparathyroidism" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

Last Updated: 1 Apr 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial isolated hyperparathyroidism" for support, advocacy or research.

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Hypoparathyroidism UK

Working to improve the lives of people with hypoparathyroidism and other parathyroid conditions.

http://www.hpth.org.uk

Last Updated: 1 Apr 2013

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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 isolated hyperparathyroidism" returned 15 free, full-text research articles on human participants. First 3 results:

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
 

Author(s): Bin Guan, James M Welch, Julie C Sapp, Hua Ling, Yulong Li, Jennifer J Johnston, Electron Kebebew, Leslie G Biesecker, William F Simonds, Stephen J Marx, Sunita K Agarwal

Journal: Am. J. Hum. Genet.. 2016 Nov;99(5):1034-1044.

 

Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), ...

Last Updated: 31 Dec 1969

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Comment on A. Ghemigian, et al. Familial isolated primary hyperparathyroidism due to HRPT2 mutation.
 

Author(s): Emmanouela Papadaki

Journal: Hormones (Athens). ;12(4):602-3.

 

Last Updated: 31 Dec 1969

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Familial isolated primary hyperparathyroidism due to HRPT2 mutation.
 

Author(s): Adina Ghemigian, Mircea Ghemigian, Irina Popescu, Lavinia Vija, Eugenia Petrova, Nicoleta Dumitru, Ioachim Dumitru

Journal: Hormones (Athens). ;12(3):454-60.

 

Primary hyperparathyroidism is a common endocrine disorder that is mostly caused by solitary tumors within the parathyroid glands. Characterized by early debut and higher frequency of multiple parathyroid masses, familial forms of primary hyperparathyroidism are caused by the already ...

Last Updated: 31 Dec 1969

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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 isolated hyperparathyroidism" returned 3 free, full-text review articles on human participants. First 3 results:

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
 

Author(s): William F Simonds, Laura A James-Newton, Sunita K Agarwal, Bing Yang, Monica C Skarulis, Geoffrey N Hendy, Stephen J Marx

Journal: Medicine (Baltimore). 2002 Jan;81(1):1-26.

 

Last Updated: 31 Dec 1969

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Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?
 

Author(s): S Miedlich, T Lohmann, U Schneyer, P Lamesch, R Paschke

Journal: Eur. J. Endocrinol.. 2001 Aug;145(2):155-60.

 

Familial isolated primary hyperparathyroidism (FIHP) is defined as hereditary primary hyperparathyroidism without the association of other diseases or tumors. Linkage analyses suggest that different genotypes can lead to the same phenotype of primary hyperparathyroidism. Hereditary ...

Last Updated: 31 Dec 1969

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[Familial isolated hyperparathyroidism: a report of two cases].
 

Author(s): T Matsuki, H Nishiura, Y Jo, H Kinoshita, M Morioka, H Tanaka

Journal: Nippon Hinyokika Gakkai Zasshi. 2000 Jan;91(1):33-6.

 

A family (a brother and a sister) of the familidal isolated hyperparathyroidism (FIH) was reported. The older brother with age of 58 year-old was pointed out hypercalcemic while examining his hypertension and proteinuria. He had high levels of serum total and ionized calcium, intact-PTH ...

Last Updated: 31 Dec 1969

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