Familial isolated hyperparathyroidism
Other Names for this Disease
- Hyperparathyroidism 1
- Hyperparathyroidism, familial isolated primary
- Familial primary hyperparathyroidism
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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).Familial isolated hyperparathyroidism (FIHP) is an inherited form of
Last updated: 12/22/2014
- Thereasa A Rich, Mimi I Hu, Jack W Martin, Nancy D Perrier, and Steven G Waguespack. CDC73-Related Disorders. GeneReviews. May 24, 2012; http://www.ncbi.nlm.nih.gov/books/NBK3789/. Accessed 12/22/2014.
- Familial isolated hyperparathyroidism. Genetics Home Reference. August, 2012; http://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism. Accessed 12/22/2014.
- Lawrence Kim. Hyperparathyroidism. Medscape. April 28, 2014; http://emedicine.medscape.com/article/127351-overview#aw2aab6b4. Accessed 12/22/2014.
- Genetics Home Reference (GHR) contains information on Familial isolated hyperparathyroidism. This website is maintained by the National Library of Medicine.
- The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- 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 isolated hyperparathyroidism. Click on the link to view a sample search on this topic.