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J Clin Endocrinol Metab. 2014 Sep;99(9):E1721-6. doi: 10.1210/jc.2014-1541. Epub 2014 Jun 20.

Cardiometabolic phenotyping of patients with familial hypocalcuric hypercalcemia.

Author information

Department of Internal Medicine III, and High Field MR-Centre (M.Krs., I.J.K., S.T.), Division of Endocrinology and Metabolism (P.W., M.Krs., Y.W., C.-H.A., A.G., A.L., S.B.-P., M.Kre.), Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, 1090 Vienna, Austria; Metabolic Unit (C.-H.A.), Institute of Biomedical Engineering, National Research Council, I-35127 Padova, Italy; Mariahilf Community Pharmacy (C.-H.A.), A-9601 Arnoldstein, Austria; Medical Direction (C.-H.A.), Specialized Hospital Complex Agathenhof, A-9322 Micheldorf, Austria; and Ludwig Boltzman Institute of Osteology (E.Z.), Hanusch Hospital of the Vienna Regional Health Insurance Fund and Austrian Workers' Compensation Board Trauma Center, 1100 Vienna, Austria.



Heterozygous inactivating mutations of the calcium-sensing receptor (CaSR) gene cause alterations in calcium metabolism [familial hypocalciuric hypercalcemia (FHH)]. In addition, calcium-sensing receptor is expressed in the myocardium and endocrine cells including pancreatic islets, enteroendocrine cells, and adipose tissue.


To discern whether FHH is associated with cardiometabolic alterations of clinical significance, endocrine responses to systemic calcium stimulation and oral glucose tolerance tests were performed. Ectopic lipid deposition and heart function were assessed using magnetic resonance spectroscopy/imaging.


Eight FHH patients and nine controls matched for anthropometric characteristics (age 45 ± 18 y; body mass index 29 ± 4 vs 29 ± 6 kg/m(2)) were studied to determine cardiac function, ectopic and visceral lipid content, and insulin sensitivity and secretion.


Insulin sensitivity (clamp-like index: 4.5 ± 0.6 vs 4.3 ± 0.4 mg/kg · min), basal (insulin secretion rate: 266 ± 33 vs 218 ± 25 pmol/min), and glucose-stimulated β-cell function (adaptation index: 180.2 ± 12.2 vs 176.2 ± 17.4) as well as calcium-stimulated insulin secretion were comparable between FHH and controls, respectively. Ectopic lipid content in liver [3.75% (1.4%; 34%) vs 4.18% (0.9%; 28%)], soleus muscle (1.07% ± 0.38% vs 1.02% ± 0.56 %), and myocardium (0.39% ± 0.3% vs 0.32% ± 0.1 %), visceral and sc adipose tissue distribution (0.51 ± 0.16 vs 0.47 ± 0.17) as well as heart function (ejection fraction: 71.5% ± 8% vs 72.8% ± 8 %; E to A ratio: 1.4% ± 0.6% vs 1.3% ± 0.7%) were not different between the groups.


Despite comprehensive cardiometabolic phenotyping, no alterations in myocardial function, lipid distribution, or glucose metabolism were observed in FHH. Thus, FHH might reflect a laboratory finding without any relevant cardiometabolic alterations.

[Indexed for MEDLINE]

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