Abstract Context Parathyroid-related hypercalcemia is due to primary hyperparathyroidism (PHPT) or to familial hypocalciuric hypercalcemia (FHH). PHPT can lead to complications that necessitate parathyroidectomy. FHH is a rare genetic disease resembling PHPT; surgery is ineffective. A reliable method for distinguishing FHH from PHPT is needed. Objective To develop an easy-to-use tool to predict if a patient has PHPT. Design Retrospective analysis of two prospective cohorts. Development of an unsupervised risk equation (Pro-FHH). Setting University hospitals in Paris (France) and Aarhus (Denmark). Participants Patients (Paris, 65 FHH patients, 85 PHPT patients; Aarhus, 38 FHH patients, 55 PHPT patients) were adults with hypercalcemia and PTH concentration within the normal range. Intervention(s) None. Main outcome measures Performance of Pro-FHH to predict PHPT. Results Pro-FHH takes into account plasma calcium, PTH, serum osteocalcin concentration, and calcium-to-creatinine clearance ratio calculated from 24-h urine collection (24h-CCCR). In the Paris cohort, area under receiver operating characteristic curve (AUROC) of Pro-FHH was 0.961, higher than that of 24h-CCCR. With a cutoff value of 0.928, Pro-FHH had 100% specificity and 100% positive predictive value for the diagnosis of PHPT; it correctly categorized 51 out of 85 PHPT patients, the remaining 34 had been recommended to undergo genetic testing, no FHH patients were wrongly categorized. In an independent cohort from Aarhus, AUROC of Pro-FHH was 0.951, higher than that of 24h-CCCR. Conclusions Pro-FHH effectively predicted whether a patient has PHPT. A prospective trial is now necessary to assess its usefulness in a larger population and in patients with elevated PTH concentration. Copyright © 2018 Endocrine Society
Journal of Clinical Endocrinology and Metabolism – Oxford University Press
Published: May 2, 2018
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