Familial isolated hyperparathyroidism
Zuletzt aktualisiert 23. Jan. 2026
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Familial isolated hyperparathyroidism is an inherited condition that is characterised by overactive parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck. They release a hormone called parathyroid hormone that regulates the amount of calcium in the blood.
Beschreibung
Familial isolated hyperparathyroidism is an inherited condition that is characterised by overactive parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck. They release a hormone called parathyroid hormone that regulates the amount of calcium in the blood.
In people with familial isolated hyperparathyroidism, too much parathyroid hormone is produced, and levels of calcium in the blood become elevated (hypercalcemia). Hypercalcemia causes many of the common signs and symptoms of familial isolated hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood pressure (hypertension), thinning of the bones (osteoporosis), weakness, and fatigue.
Many people with familial isolated hyperparathyroidism have one or more noncancerous (benign) tumours called adenomas. Typically, only one of the four parathyroid glands is affected, but sometimes more than one gland has an adenoma. Rarely, the tumour can become cancerous; this is called parathyroid carcinoma.
In some cases, familial isolated hyperparathyroidism may not be diagnosed until adulthood. Often, the first indication of the condition is elevated calcium levels that are identified during a routine blood test, even though the affected individual may not yet have signs or symptoms of hyperparathyroidism or hypercalcemia.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
FIHP
Related patient information and medicines
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Hyperparathyroidism occurs when too much parathyroid hormone is released by the parathyroid glands in the neck. ... Primary hyperparathyroidism does not usually run in families. However, in a very small number of people, it can be the result of an inherited condition genannt familial isolated hyperparathyroidism. Also, rarely, it may be inherited.
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Weiterführende Lektüre und Referenzen
- Familial isolated hyperparathyroidism; MedlinePlus, National Library of Medicine.
- Cetani F, Dinoi E, Pierotti L, Pardi E. Familial states of primary hyperparathyroidism: an update. J Endocrinol Invest. 2024 Sep;47(9):2157-2176. doi: 10.1007/s40618-024-02366-7. Epub 2024 Apr 18.
- Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregossa L, Oppo A, Marcocci C. Whole exome sequencing in familial isolated primary hyperparathyroidism. J Endocrinol Invest. 2020 Feb;43(2):231-245. doi: 10.1007/s40618-019-01107-5. Epub 2019 Sep 5.
- Cetani F, Saponaro F, Borsari S, Marcocci C. Familial and Hereditary Forms of Primary Hyperparathyroidism. Front Horm Res. 2019;51:40-51. doi: 10.1159/000491037. Epub 2018 Nov 19.
- English KA, Lines KE, Thakker RV. Genetics of hereditary forms of primary hyperparathyroidism. Hormones (Athens). 2024 Mar;23(1):3-14. doi: 10.1007/s42000-023-00508-9. Epub 2023 Dec 1.
- Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.
- Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV. Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8. doi: 10.1038/ncpendmet0718.
- Marini F, Giusti F, Brandi ML. Congenital primary hyperparathyroidism. Best Pract Res Clin Endocrinol Metab. 2025 Mar;39(2):101982. doi: 10.1016/j.beem.2025.101982. Epub 2025 Jan 31.
- Newey PJ. Hereditary Primary Hyperparathyroidism. Endocrinol Metab Clin North Am. 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003.
- Skefos CM, Waguespack SG, Perrier ND, Hu MI. CDC73-Related Disorders. 2008 Dec 31 [updated 2023 Sep 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK3789/
- Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A. GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e2021-e2026. doi: 10.1210/clinem/dgab929.
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23. Jan. 2026 | Neueste Version
1 Jan 2026 | Ursprünglich veröffentlicht
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