Since the last international guidelines were published in 2014 on the evaluation and management of primary hyperparathyroidism (PHPT), new information has become available with regard to evaluation, diagnosis, epidemiology, genetics, classical and nonclassical manifestations, surgical and nonsurgical approaches, and natural history. To provide the most current summary of these developments, an international group, consisting of over 50 experts in these various aspects of PHPT, was convened. This paper provides the results of the task force that was assigned to review the information on the management of PHPT. For this task force on the management of PHPT, two questions were the subject of systematic reviews using the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) methodology. The full report addressing surgical and nonsurgical management of PHPT, utilizing the GRADE methodology, is published separately in this series. In this report, we summarize the results of that methodological review and expand them to encompass a much larger body of new knowledge that did not specifically fit the criteria of the GRADE methodology. Together, both the systematic and narrative reviews of the literature, summarized in this paper, give the most complete information available to date. A panel of experts then considered the last set of international guidelines in light of the newer data and assessed the need for their revision. This report provides the evidentiary background to the guidelines report. In that report, evidence from all task forces is synthesized into a summary statement and revised guidelines for the evaluation and management of PHPT. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
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http://dx.doi.org/10.1002/jbmr.4682 | DOI Listing |
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFBest Pract Res Clin Endocrinol Metab
January 2025
Department of Endocrinology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, India. Electronic address:
Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
January 2025
Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, AP-HP, Hôpital Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, 94 275 Le Kremlin Bicêtre, France. Electronic address:
Preoperative treatment of PHPT aims to 1) manage severe and/or symptomatic hypercalcemia and 2) prevent postoperative hypocalcemia. Severe hypercalcemia, defined as a blood calcium level ≥ 3.5 mmol/L, requires admission to hospital in a conventional or critical care unit, depending on clinical symptoms and comorbidities.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Nuclear Medicine and Molecular Imaging, Institut de Cancérologie de Strasbourg Europe (ICANS), University Hospitals of Strasbourg, University of Strasbourg, 67200 Strasbourg, France.
Patients diagnosed with multiple endocrine neoplasia type-1 (MEN1) often initially present with primary hyperparathyroidism (pHPT), and typically undergo surgical intervention. While laboratory tests are fundamental for diagnosis, imaging is crucial for localizing pathological parathyroids to aid in precise surgical planning. In this pictorial review, we will begin by comprehensively examining key imaging techniques and their established protocols, evaluating their effectiveness in detecting abnormal parathyroid glands.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.
Primary hyperparathyroidism (PHPT) is relatively uncommon in children, and skeletal deformities due to it are even rarer in this age group. Less than 20 such cases have been reported in the English literature. We describe a case series of three patients who presented with genu valgum deformity and were found to have primary hyperparathyroidism on further evaluation.
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