title: Musculoskeletal complications of hereditary hemochromatosis: a case-control study.
abstract: OBJECTIVE
  Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a classic complication of hereditary hemochromatosis (HH) but has never been investigated in a cross-sectional study. We investigated whether HH is associated with increased prevalence of OA and OP and related factors.
  
  
  METHODS
  A self-administered questionnaire was completed by 306 patients with HH and 304 age and sex-matched unaffected controls.
  
  
  RESULTS
  The mean age of patients was 60.1 ± 11.3 years, and 47.4% were women. More patients with HH than controls had been given a diagnosis of OA: 50.5% vs 28.9% [adjusted OR (aOR) 2.5, 95% CI 1.8-3.6]. Compared with controls, patients with HH had a higher risk of knee (aOR 5.3, 95% CI 1.1-25.6) and hip replacement prosthesis (aOR 5.2, 95% CI 2.2-11.9). More patients than controls had been diagnosed with OP: 23.3% vs 4.6% (aOR 7.3, 95% CI 3.2-17.0). Patients with HH showed an increased prevalence, although not significant, of wrist (aOR 1.7, 95% CI 0.9-3.0) or vertebral fractures (aOR 1.7, 95% CI 0.8-3.8). The severity of iron overload, as defined by a ferritin level > 1000 μg/l at diagnosis, was associated with OA (p = 0.0005), OP (p = 0.01), presence of hip prosthesis (p = 0.04), wrist fractures (p = 0.002), and vertebral fractures (p = 0.02).
  
  
  CONCLUSIONS
  This case-control study strongly suggests a significant association among HH, OA, and OP. Joint involvement can be severe, especially in patients with substantially elevated ferritin levels.
authors.affiliation: Université Paris 7, UFR médicale, Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Lariboisière, Fédération de Rhumatologie, Paris, France. pascal.richette@lrb.aphp.fr
authors.forename: Pascal
authors.initials: P
authors.lastname: Richette
authors.forename: Sébastien
authors.initials: S
authors.lastname: Ottaviani
authors.forename: Eric
authors.initials: E
authors.lastname: Vicaut
authors.forename: Thomas
authors.initials: T
authors.lastname: Bardin
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D050723:Fractures, Bone / Q000209:etiology; D006432:Hemochromatosis / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009140:Musculoskeletal Diseases / Q000453:epidemiology / Q000209:etiology*; D010003:Osteoarthritis / Q000209:etiology; D010024:Osteoporosis / Q000209:etiology; D011795:Surveys and Questionnaires