title: Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults.
abstract: OBJECTIVE
  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is characterized by chronic mucocutaneous candidiasis and autoimmune destruction of endocrine organs. The resulting endocrinopathies and their treatment may impact bone health. The purpose of our study was to assess bone health and its correlates in adult patients with APECED.
  
  
  METHODS
  Twenty-five adults (12 males) with APECED were prospectively assessed. Data on their previous medical history were collected from hospital records. Areal bone mineral density (aBMD) for the lumbar spine (L1-L4), femoral neck and whole body as well as volumetric BMD (vBMD) for the lumbar spine (L2-L4) were measured with dual-energy X-ray absorptiometry (DXA).
  
  
  RESULTS
  Mean age was 34 years (range 21-59 years). All patients had 1-4 autoimmune endocrinopathies, the most common being adrenocortical failure (20 patients) and hypoparathyroidism (18 patients). Osteopaenia or osteoporosis was present in 28%. The median (range) aBMD Z-scores were for the lumbar spine -0.3 (-2.3 to +3.3) and for the femoral neck, -0.1 (-2.2 to +2.0). The BMD Z-scores tended to be higher in patients with hypoparathyroidism than in patients with normal parathyroid function (at the lumbar spine +0.4 vs.-1.2, P = 0.016, and at the femoral neck +0.3 vs.-0.4, P = 0.090). Adrenocortical failure had a negative impact on BMD. Six patients had had low-impact fractures and three were diagnosed with compression fractures.
  
  
  CONCLUSIONS
  Despite the complex endocrine problems, the overall prevalence of symptomatic osteoporosis is low in adults treated for APECED. Osteopaenia is frequently observed and warrants follow-up. Treated hypoparathyroidism may have a positive, and adrenocortical failure a negative, impact on bone health.
authors.affiliation: The Hospital for Children and Adolescents, Paediatric Endocrinology, University of Helsinki, Helsinki, Finland. outi.makitie@helsinki.fi
authors.forename: O
authors.initials: O
authors.lastname: Mäkitie
authors.forename: E B
authors.initials: EB
authors.lastname: Sochett
authors.forename: S
authors.initials: S
authors.lastname: Bondestam
authors.forename: I
authors.initials: I
authors.lastname: Sipilä
authors.forename: J
authors.initials: J
authors.lastname: Perheentupa
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000150:complications / Q000503:physiopathology; D016009:Chi-Square Distribution; D005260:Female; D005272:Femur Neck / Q000503:physiopathology; D050723:Fractures, Bone / Q000150:complications / Q000503:physiopathology; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000503:physiopathology; D008159:Lumbar Vertebrae / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications / Q000503:physiopathology*; D012306:Risk