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Observational Study
. 2020 Jul;35(7):1263-1273.
doi: 10.1002/jbmr.3992. Epub 2020 Mar 27.

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia

Anne-Lise Lecoq  1 , Philippe Chaumet-Riffaud  2 , Anne Blanchard  3 , Margot Dupeux  4 , Anya Rothenbuhler  5 , Benoit Lambert  6 , Emmanuel Durand  2 , Erika Boros  5 , Karine Briot  7 , Caroline Silve  8 , Bruno Francou  9 , Marie Piketty  10 , Philippe Chanson  1   11 , Sylvie Brailly-Tabard  9 , Agnès Linglart  5   11 , Peter Kamenický  1   11
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Free article
Observational Study

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia

Anne-Lise Lecoq et al. J Bone Miner Res. 2020 Jul.
Free article

Abstract

X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25-OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty-eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7-72.7 versus 36.0 ng/L, IQR 27.7-44.0, p < .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early-onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research.

Keywords: FGF23; HYPERPARATHYROIDISM; PARATHYROID HORMONE; PHEX; X-LINKED HYPOPHOSPHATEMIA.

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References

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