Pro-FHH: a risk equation to facilitate the diagnosis of parathyroid-related hypercalcemia.

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Pro-FHH: a risk equation to facilitate the diagnosis of parathyroid-related hypercalcemia.

J Clin Endocrinol Metab. 2018 May 02;:

Authors: Bertocchio JP, Tafflet M, Koumakis E, Maruani G, Vargas-Poussou R, Silve C, Nissen PH, Baron S, Prot-Bertoye C, Courbebaisse M, Souberbielle JC, Rejnmark L, Cormier C, Houillier P

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.

PMID: 29727008 [PubMed - as supplied by publisher]

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