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Papers of the Week


2022 Jul 29


Orphanet J Rare Dis


17


1

Health-related quality of life of X-linked hypophosphatemia in Spain.

Authors

Yanes LMI, Diaz-Curiel M, Peris P, Vicente C, Marin S, Ramon-Krauel M, Hernandez J, Broseta JJ, Espinosa L, Mendizabal S, Perez-Sukia L, Martínez V, Palazón C, Piñero JA, Calleja MA, Espin J, Arborio-Pinel R, Ariceta G
Orphanet J Rare Dis. 2022 Jul 29; 17(1):298.
PMID: 35906684.

Abstract

Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain.