Format

Send to

Choose Destination
Mol Genet Metab. 2009 Mar;96(3):113-20. doi: 10.1016/j.ymgme.2008.12.001. Epub 2009 Jan 14.

Patients with Gaucher disease living in England show a high prevalence of vitamin D insufficiency with correlation to osteodensitometry.

Author information

1
Department of Internal Medicine II, State Hospital Klagenfurt, Klagenfurt, Austria. peter.mikosch@tele2.at

Abstract

AIM:

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.

PATIENTS AND 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.

PMID:
19147383
DOI:
10.1016/j.ymgme.2008.12.001
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center