title: Primary hyperparathyroidism.
abstract: Primary hyperparathyroidism (PHPT) is a common disorder in which parathyroid hormone (PTH) is excessively secreted from one or more of the four parathyroid glands. A single benign parathyroid adenoma is the cause in most people. However, multiglandular disease is not rare and is typically seen in familial PHPT syndromes. The genetics of PHPT is usually monoclonal when a single gland is involved and polyclonal when multiglandular disease is present. The genes that have been implicated in PHPT include proto-oncogenes and tumour-suppressor genes. Hypercalcaemia is the biochemical hallmark of PHPT. Usually, the concentration of PTH is frankly increased but can remain within the normal range, which is abnormal in the setting of hypercalcaemia. Normocalcaemic PHPT, a variant in which the serum calcium level is persistently normal but PTH levels are increased in the absence of an obvious inciting stimulus, is now recognized. The clinical presentation of PHPT varies from asymptomatic disease (seen in countries where biochemical screening is routine) to classic symptomatic disease in which renal and/or skeletal complications are observed. Management guidelines have recently been revised to help the clinician to decide on the merits of a parathyroidectomy or a non-surgical course. This Primer covers these areas with particular attention to the epidemiology, clinical presentations, genetics, evaluation and guidelines for the management of PHPT.
authors.affiliation: Division of Endocrinology, College of Physicians and Surgeons, Columbia University Medical Center, 630 W. 168th Street, New York, New York 10032, USA.
authors.forename: John P
authors.initials: JP
authors.lastname: Bilezikian
authors.affiliation: Division of Endocrinology, College of Physicians and Surgeons, Columbia University Medical Center, 630 W. 168th Street, New York, New York 10032, USA.
authors.forename: Natalie E
authors.initials: NE
authors.lastname: Cusano
authors.affiliation: Division of Endocrinology and Metabolism and Geriatrics, McMaster University, Hamilton, Canada.
authors.forename: Aliya A
authors.initials: AA
authors.lastname: Khan
authors.affiliation: Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-tong University School of Medicine, Shanghai, China.
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Liu
authors.affiliation: Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Marcocci
authors.affiliation: Division of Endocrinology and Diabetes, Agamenon Magalhães Hospital, Brazilian Ministry of Health, University of Pernambuco, Medical School, Recife, Brazil.
authors.forename: Francisco
authors.initials: F
authors.lastname: Bandeira
mesh_terms: D001007:Anxiety / Q000209:etiology; D058070:Asymptomatic Diseases / Q000628:therapy; D044383:Black People / Q000208:ethnology / Q000235:genetics / Q000706:statistics & numerical data; D005221:Fatigue / Q000209:etiology; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000209:etiology; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology*; D007508:Irritable Mood; D008279:Magnetic Resonance Imaging / Q000379:methods; D018908:Muscle Weakness / Q000209:etiology; D010281:Parathyroid Hormone / Q000032:analysis / Q000097:blood; D010282:Parathyroid Neoplasms / Q000150:complications; D016105:Parathyroidectomy / Q000379:methods; D012893:Sleep Wake Disorders / Q000209:etiology; D013001:Somatoform Disorders / Q000209:etiology
chemical_list: D010281:Parathyroid Hormone