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

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.