Management of familial Hyperparathyroid syndromes: MEN1, MEN2, HPT-Jaw tumour, FHH, neonatal severe hyperparathyroidism, familial isolated hyperparathyroidism’

Publication date: Available online 28 September 2018Source: Best Practice & Research Clinical Endocrinology & MetabolismAuthor(s): Eller-Vainicher Cristina, Falchetti AlbertoAbstractWhile 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.

Source: Best Practice and Research Clinical Endocrinology and Metabolism - October 5, 2018 Category: Endocrinology Source Type: research