title: Bone status and fractures in 85 adults with Wilson's disease.
abstract: Wilson's disease is characterized by copper deposition, especially in the liver and central nervous system. We assessed the prevalent fractures and bone mineral density (BMD) and related risk factors in 85 patients. BMD was normal, but patients with severe neurological involvement, low BMI, and/or amenorrhea are at risk for fractures.
  
  
  BACKGROUND
  Wilson's disease (WD) is characterized by copper deposition, especially in the liver and central nervous system. Two studies showed a high prevalence of osteoporosis in WD patients. We wanted to assess the prevalent fractures and bone mineral density (BMD) and to identify risk factors for bone loss and fractures in a large group of WD patients.
  
  
  METHODS
  In this prospective cross-sectional survey at National center of reference for WD, we included 85 patients, 47 women, and 38 men, with a mean age of 35 ± 10 years, and mean time from diagnosis to study of 21 ± 9 years; 57 (67%) patients had neurological signs. Peripheral fractures, prevalent radiological vertebral fractures (VFx), and dual-energy X-ray absorptiometry BMD measurements at the femoral neck (FN) and lumbar spine (LS) were studied.
  
  
  RESULTS
  Mean LS and FN Z-score was normal (-0.37 ± 1.20 at LS and -0.06 ± 1.20 at FN). BMI <19 kg/m(2) and amenorrhea were associated with low BMD. Prevalent peripheral fractures were noted in 43 (51%) and VF in 7 (8%) patients. Severity of neurological involvement and male sex was associated with peripheral fractures, whereas older age, severe neurological involvement, and low BMD and Z-score values were associated with VF.
  
  
  CONCLUSIONS
  Our data showing normal BMD overall do not support routine bone status evaluation in adults with WD. However, patients with severe neurological involvement, low BMI, and/or amenorrhea are at risk factors for fractures and may require specific monitoring.
authors.affiliation: Service de Rhumatologie, Pole Appareil Locomoteur, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Lariboisière, 75010, Paris, France, anne-sophie.quemeneur@apr.aphp.fr.
authors.forename: A-S
authors.initials: AS
authors.lastname: Quemeneur
authors.forename: J-M
authors.initials: JM
authors.lastname: Trocello
authors.forename: H-K
authors.initials: HK
authors.lastname: Ea
authors.forename: A
authors.initials: A
authors.lastname: Ostertag
authors.forename: A
authors.initials: A
authors.lastname: Leyendecker
authors.forename: J-C
authors.initials: JC
authors.lastname: Duclos-Vallée
authors.forename: M-C
authors.initials: MC
authors.lastname: de Vernejoul
authors.forename: F
authors.initials: F
authors.lastname: Woimant
authors.forename: F
authors.initials: F
authors.lastname: Lioté
mesh_terms: D015502:Absorptiometry, Photon / Q000379:methods; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D015519:Bone Density / Q000502:physiology; D003430:Cross-Sectional Studies; D005260:Female; D005272:Femur Neck / Q000503:physiopathology; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D008159:Lumbar Vertebrae / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D058866:Osteoporotic Fractures / Q000209:etiology* / Q000503:physiopathology; D016103:Spinal Fractures / Q000209:etiology / Q000503:physiopathology; D055815:Young Adult
chemical_list: D015415:Biomarkers