Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide

Abstract

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme acid beta-glucosidase (glucocerebrosidase) due to mutations in the GBA gene. The most common form (type I) is associated with severe hematologic, visceral and bone disease. Disease-modifying treatments, such as enzyme replacement therapy and substrate reduction therapy, can improve the hematologic and visceral aspects of the disease but success with improving severe osteopenia, which can increase the risk of fractures, is limited. Our case involves a patient with complex disease affecting bone health including Gaucher disease (type I), Sjögren syndrome, rheumatoid arthritis and corticosteroid use who did not respond to long term use of bisphosphonates. We report an improvement in bone mineral density and bone architecture commensurate with a reduced incidence of fractures in whom we used teriparatide (human parathyroid hormone (PTH; 1-34) to treat severe osteopenia. We conclude that teriparatide should be considered for further studies as an agent to improve bone mineral density in patients with Gaucher disease.

Competing interests: None declared

Appendices

Synopsys

Teriparatide can increased bone mineral density in a patient with Gaucher disease.

Compliance with Ethics Guidelines

Conflict of Interest

Aneal Khan has received speaker honorarium, travel grants, and consultation fees from Genzyme Corporation^® (a Sanofi^® Company) and is a member of the International Collaborative Gaucher Group (ICGG).

David Hanley and Steven Boyd have declared no conflict of interest.

Colleen McNeil has received travel grants from Genzyme Corporation^® (a Sanofi^® Company).

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (Wenstrup et al. 2007). Teriparatide is labeled for the use for severe osteoporosis and approved for such use by Health Canada (Drug Identification Number 02254689). Therefore, this case reports an observation on a clinically approved use of the drug, is not a research trial, and does not require application to research ethics for research consent. Dual X-ray absorptiometry is used in standard clinical practice to monitor patients with osteoporosis and does not require research consent. High-resolution peripheral computed tomography is a research application, and we have obtained informed consent for its application in the subject of this case report.

Author Contributions

Aneal Khan helped design the observation plan from which the data was generated, analyzed the data, constructed, and edited the manuscript.

David Hanley helped design the observation plan, analyzed the data, and edited the manuscript.

Colleen McNeil helped analyze the data and review the manuscript.

Steven Boyd helped design the observation plan, analyzed the data, and edited the manuscript.