title: Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms.
abstract: OBJECTIVE
  Adults with X-linked hypophosphatemia (XLH) may suffer from skeletal symptoms leading to functional disability. No data on their quality of life (QoL) have been reported so far. Our objectives were to evaluate the QoL and its determinants in XLH adults.
  
  
  METHODS
  We conducted a prospective study in XLH adults, who consulted for musculoskeletal symptoms between 2013 and 2014. We assessed their QoL using HAQ, RAPID3 and SF36, and analysed the variables associated with low QoL. We compared their QoL to that of patients affected with axial spondyloarthritis (ax-SpA) (paired on age and gender), a rheumatologic disorder with a known low QoL.
  
  
  RESULTS
  Fifty-two XLH adults (37 women (71.1%); mean age 41.8±13.3 years) were included; 44 (84.6%) patients had an altered QoL. Increased age and presence of structural lesions were significantly associated with worse QoL (HAQ, RAPID3) (P<0.05). Presence of enthesopathies was significantly associated with worse RAPID3 (OR=4.45 (1.09-18.29), P=0.038). Treatment with phosphate supplements and vitamin D in XLH adults were significantly associated with a better SF36-mental component score (OR=0.14 (0.03-0.57), P=0.007 and OR=0.26 (0.07-0.98), P=0.047 respectively). QoL was significantly worse in XLH than in ax-SpA adults (VAS pain, SF36-PCS, RAPID3) (P<0.05).
  
  
  CONCLUSIONS
  Our study showed i) QoL of XLH adults is altered and significantly worse than that of ax-SpA patients (VAS pain, SF36-PCS and RAPID3), ii) structural lesions and especially enthesopathies are associated with a worse QoL and iii) treatment using phosphate supplements and/or vitamin D is associated with a better mental health score.
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Che
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Roux
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
authors.forename: Adrien
authors.initials: A
authors.lastname: Etcheto
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
authors.forename: Anya
authors.initials: A
authors.lastname: Rothenbuhler
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
authors.forename: Peter
authors.initials: P
authors.lastname: Kamenicky
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Linglart
authors.affiliation: Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France Department of RheumatologyFrench Reference Center for Genetic Bone Diseases, Cochin Hospital, Assistance Publique- Hôpitaux de Paris, 27 rue du Faubourg Saint Jacques, 75014 Paris, FranceINSERM U1153Paris, FranceParis-Descartes UniversityParis, FranceINSERM U1169Paris Sud University, Assistance Publique- Hôpitaux de Paris, French Reference Center for Rare Disorders of the Mineral Metabolism, Department of Endocrinology and Diabetology for Children, Bicêtre Hospital, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France karine.briot@aphp.fr.
authors.forename: Karine
authors.initials: K
authors.lastname: Briot
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D015331:Cohort Studies; D053098:Familial Hypophosphatemic Rickets / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology*; D005260:Female; D050723:Fractures, Bone / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology*; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology*; D015207:Osteoarthritis, Hip / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology; D020370:Osteoarthritis, Knee / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology; D055013:Osteoarthritis, Spine / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology; D011446:Prospective Studies; D011788:Quality of Life; D011859:Radiography; D012216:Rheumatic Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology; D025241:Spondylarthritis / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology*; D025242:Spondylarthropathies / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology