title: Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry.
abstract: OBJECTIVE
  Gaucher disease type 1 (GD-1) is the most prevalent lysosomal storage disorder and frequently causes osteopenia and osteoporosis. Adequate vitamin D levels are essential for bone health. The present study retrospectively analyzed 25-hydroxyvitamin D (25[OH]D) in outpatients with GD-1.
  
  
  METHODS
  Sixty GD-1 patients living at home and with residence in southern or central England (34 men, 26 women), aged 17-85 years (mean 45.0 years) were seen at routine follow-up visits (range: 1-9, mean: 4.4) between January 2003 and July 2007. Overall, 264 blood samples, collected at different seasons of the year, were present for laboratory testing. The retrospective interpretation of vitamin D deficiency was based on different cut-off levels of 25(OH)D (<25 nmol/L, <50 nmol/L, <80 nmol/L) and the seasons of the year. Vitamin D sufficiency was defined as 25(OH)D >80 nmol/L.
  
  
  RESULTS
  The mean+/-SD of 25(OH)D was 58.2+/-30.3. Degrees of vitamin D deficiency (<25 nmol/L, <50 nmol/L, <80 nmol/L) were present in 9.1%, 44.3%, 83.0%, vitamin D sufficiency (>80 nmol/L) in only 17.0%, respectively. A significant seasonal variation of 25(OH)D was present. Results of vitamin D deficiency for December-May were 15.7%, 63.8%, 92.9%, and for June-November 2.9%, 26.3%, 73.7%. The 25(OH)D values representing the seasonal nadir observed during the season December-May showed a significant correlation with T-scores and Z-scores of the lumbar spine and hip. Parathyroid hormone and 25(OH)D were inversely correlated.
  
  
  CONCLUSIONS
  Vitamin D deficiency is frequent among GD-1 patients. To optimize treatment of GD-1 vitamin D supplementation should be recommended.
authors.affiliation: Department of Internal Medicine II, State Hospital Klagenfurt, Klagenfurt, Austria. peter.mikosch@tele2.at
authors.forename: P
authors.initials: P
authors.lastname: Mikosch
authors.forename: M
authors.initials: M
authors.lastname: Reed
authors.forename: H
authors.initials: H
authors.lastname: Stettner
authors.forename: R
authors.initials: R
authors.lastname: Baker
authors.forename: A B
authors.initials: AB
authors.lastname: Mehta
authors.forename: D A
authors.initials: DA
authors.lastname: Hughes
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015519:Bone Density; D004739:England / Q000453:epidemiology; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D012189:Retrospective Studies; D012621:Seasons; D014807:Vitamin D / Q000097:blood*; D014808:Vitamin D Deficiency / Q000097:blood / Q000453:epidemiology*; D055815:Young Adult
chemical_list: D014807:Vitamin D