Vitamin D helps Gaucher disease patients

Editor's note: The enzyme replacement therapy is essential for treatment of gaucher disease. But it is also important to note that many lifestyle parameters affect a person's health status. Vitamin D is one thing that these patients need to pay attention to.

On Feb 26, the Food and Drug Administration (FDA) announced it has approved velaglucerase alfa for injection (VPRIV) to treat children and adults with a rare genetic disorder called Gaucher disease.

Gaucher disease results from the deficiency of an enzyme called glucocerebrosidase. Because of the deficiency, patients tend to build up harmful amounts of a certain fatty substance (lipid) in the liver, spleen, bones, bone marrow and nervous system, making cells and organs dysfunctional.

The enzyme replacement therapy (ERT) is the standard treatment for Gaucher disease.

The FDA says patients who are on Cerezyme, which has been approved earlier to treat the disease, but in short supply currently may be safely switched to this enzyme which studies show is as effective and safe as Cerezyme.

VPRIV is manufactured by Shire Human Genetic Therapies Inc. of Cambridge, Mass.

Type 1 Gaucher disease is the most commonly seen lusosomal storage disorder and frequently lead to osteopenia and osteoporosis.

One study led by Mikosch P and colleagues from State Hospital Klagenfurt in Klagenfurt, Austria suggests that vitamin D supplementation should be recommended for patients with type 1 Gaucher disease to help maintain bone health.

Vitamin D is known to be essential for bone health.  The researchers wanted to examine whether sufficiency of vitamin D may help the Gaucher disease patients.

Mikosch et al. tested 25-hydroxyvitamin D (25[OH]D) in blood samples collected from sixty patients aged 17 to 85 years with the disease living at home and with residence in southern or central England. T-scores and Z-scores of the lumbar spine and hip were used in the study.

They found high incidence of vitamin D insufficiency among Gaucher disease patients, particularly during the period between December and May.  

Depending on the definition of vitamin D sufficiency (less than 25, 50 or 80 nmol per liter),  the insufficiency rates were 15.7%, 63.8%, 92.9% for the December to May period and for the period from June to November, 2.9%, 26.3%, 73.7%, respectively. 

Most importantly, the researchers found "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."

The study was published in the March 2009 issue of Molecular Genetics and Metabolism.

By Jimmy Downs

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