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Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):861-875. doi: 10.1016/j.beem.2018.09.010. Epub 2018 Sep 28.

Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.

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Unit of Endocrinology, Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, Milan, Italy.
EndOsMet, Endocrinology and Metabolic Bone Diseases Branch, Villa Donatello Private Hospital, Firenze, Italy; Endocrinology, Villa Alba Clinic, Villa Maria Group, Bologna, Italy. Electronic address:


While primary hyperparathyroidism (PHPT) generally represents a common endocrine disorder, being the more frequent cause of hypercalcemia in outpatients, familial forms of PHPT (FPHPT) account for no more than 2-5% of the overall PHPT. In the last decades, many technical progresses in both molecular and biochemical-radiological evaluation have been made, and substantial advancements in understanding these disorders have been reached. Differences both in the pathogenesis and clinical presentation exist among the various hyperparathyroid syndromic forms, and, since FPHPT is frequently associated to other endocrine, proliferative and/or functional disorders, as also non-endocrine tumours, with varying clinical spectrum of occurrence in each syndrome, its early clinically detection for appropriately preventing complications (i.e. kidney and bone disorders) is strictly advised. In this review, the clinical-biochemical features and diagnostic procedures of each FPHPT form will be summarized and a general overview on surgical and pharmacological approaches to FPHPT has been also considered.


biochemical-clinical diagnosis of familial primary hyperparathyroidism; familial primary hyperparathyroidism; parathyroid tumours; pathogenesis of familial primary hyperparathyroidism


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