PMID- 29727008 OWN - NLM STAT- MEDLINE DCOM- 20190104 LR - 20190104 IS - 1945-7197 (Electronic) IS - 0021-972X (Linking) VI - 103 IP - 7 DP - 2018 Jul 1 TI - Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia. PG - 2534-2542 LID - 10.1210/jc.2017-02773 [doi] AB - 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 with FHH, 85 with PHPT; Aarhus: 38 with FHH, 55 with PHPT) were adults with hypercalcemia and PTH concentration within normal range. MAIN OUTCOME MEASURES: Performance of Pro-FHH to predict PHPT. RESULTS: Pro-FHH takes into account plasma calcium, PTH, and serum osteocalcin concentrations, and calcium-to-creatinine clearance ratio calculated from 24-hour urine collection (24h-CCCR). In the Paris cohort, area under the 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 of 85 patients with PHPT; the remaining 34 were recommended to undergo genetic testing. No patients with FHH were wrongly categorized. In an independent cohort from Aarhus, AUROC of Pro-FHH was 0.951, higher than that of 24h-CCCR. CONCLUSION: Pro-FHH effectively predicted whether a patient has PHPT. A prospective trial is necessary to assess its usefulness in a larger population and in patients with elevated PTH concentration. FAU - Bertocchio, Jean-Philippe AU - Bertocchio JP AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Departement de Physiologie, Paris, France. AD - Universite Paris Descartes, Faculte de Medecine, Paris, France. AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. AD - INSERM, UMRS1138, Centre de Recherche des Cordeliers, Paris, France. FAU - Tafflet, Muriel AU - Tafflet M AD - INSERM, U970, Paris Cardiovascular Research Center, University Paris Descartes, Sorbonne Paris Cite, UMR-S970, Paris, France. FAU - Koumakis, Eugenie AU - Koumakis E AD - Assistance Publique-Hopitaux de Paris, Hopital Cochin, Service de Rhumatologie, Paris, France. FAU - Maruani, Gerard AU - Maruani G AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Departement de Physiologie, Paris, France. AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. AD - Assistance Publique-Hopitaux de Paris, Institut Necker-Enfants Malades, INSERM U1151 -CNRS UMR 8253, Paris, France. FAU - Vargas-Poussou, Rosa AU - Vargas-Poussou R AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. AD - INSERM, UMRS1138, Centre de Recherche des Cordeliers, Paris, France. AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, Paris, France. FAU - Silve, Caroline AU - Silve C AD - Assistance Publique-Hopitaux de Paris, Hopital Cochin, Biochimie et Genetique Moleculaires, Paris, France. AD - INSERM, U1169, Universite Paris Sud, Hopital Bicetre, Le Kremlin Bicetre, France. AD - Centre de Reference des Maladies Rares du Metabolisme du Phosphore et du Calcium Filiere de Sante Maladies Rares OSCAR, Paris, France. FAU - Nissen, Peter H AU - Nissen PH AD - Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus N, Denmark. FAU - Baron, Stephanie AU - Baron S AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Departement de Physiologie, Paris, France. AD - Universite Paris Descartes, Faculte de Medecine, Paris, France. AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. FAU - Prot-Bertoye, Caroline AU - Prot-Bertoye C AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Departement de Physiologie, Paris, France. AD - Universite Paris Descartes, Faculte de Medecine, Paris, France. AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. AD - INSERM, UMRS1138, Centre de Recherche des Cordeliers, Paris, France. FAU - Courbebaisse, Marie AU - Courbebaisse M AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Departement de Physiologie, Paris, France. AD - Universite Paris Descartes, Faculte de Medecine, Paris, France. AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. AD - Assistance Publique-Hopitaux de Paris, Institut Necker-Enfants Malades, INSERM U1151 -CNRS UMR 8253, Paris, France. FAU - Souberbielle, Jean-Claude AU - Souberbielle JC AD - Assistance Publique-Hopitaux de Paris, Institut Necker-Enfants Malades, Laboratoires d'Explorations Fonctionnelles, Paris, France. FAU - Rejnmark, Lars AU - Rejnmark L AD - Department of Endocrinology and Internal Medicine, THG, Aarhus University Hospital, Aarhus C, Aarhus, Denmark. FAU - Cormier, Catherine AU - Cormier C AD - Assistance Publique-Hopitaux de Paris, Hopital Cochin, Service de Rhumatologie, Paris, France. FAU - Houillier, Pascal AU - Houillier P AD - Assistance Publique-Hopitaux de Paris, Hopital Europeen Georges Pompidou, Departement de Physiologie, Paris, France. AD - Universite Paris Descartes, Faculte de Medecine, Paris, France. AD - Centre de Reference des Maladies Renales Hereditaires de l'Enfant et de l'Adulte, Paris, France. AD - INSERM, UMRS1138, Centre de Recherche des Cordeliers, Paris, France. AD - CNRS, ERL8228, Paris, France. LA - eng PT - Journal Article PL - United States TA - J Clin Endocrinol Metab JT - The Journal of clinical endocrinology and metabolism JID - 0375362 RN - 0 (Parathyroid Hormone) RN - 104982-03-8 (Osteocalcin) RN - AYI8EX34EU (Creatinine) RN - SY7Q814VUP (Calcium) RN - Hypocalciuric hypercalcemia, familial, type 1 SB - IM CIN - J Clin Endocrinol Metab. 2019 Feb 1;104(2):463-464. PMID: 30383233 CIN - J Clin Endocrinol Metab. 2019 Feb 1;104(2):461-462. PMID: 30388234 MH - Adult MH - Aged MH - Area Under Curve MH - Calcium/blood/urine MH - Creatinine/urine MH - Female MH - Humans MH - Hypercalcemia/complications/*congenital/*diagnosis/etiology MH - Hyperparathyroidism, Primary/complications/*diagnosis MH - Male MH - Middle Aged MH - Osteocalcin/blood MH - Parathyroid Hormone/blood MH - Predictive Value of Tests MH - ROC Curve MH - Retrospective Studies MH - Risk Assessment/*methods MH - Sensitivity and Specificity EDAT- 2018/05/05 06:00 MHDA- 2019/01/05 06:00 CRDT- 2018/05/05 06:00 PHST- 2017/12/23 00:00 [received] PHST- 2018/04/27 00:00 [accepted] PHST- 2018/05/05 06:00 [pubmed] PHST- 2019/01/05 06:00 [medline] PHST- 2018/05/05 06:00 [entrez] AID - 4990772 [pii] AID - 10.1210/jc.2017-02773 [doi] PST - ppublish SO - J Clin Endocrinol Metab. 2018 Jul 1;103(7):2534-2542. doi: 10.1210/jc.2017-02773.