Bisphosphonate Therapy in a Patient with Osteogenesis Imperfecta Type 4 and Intestinal Transplant
Presentation Number: SAT 335
Date of Presentation: April 1st, 2017
Joyce George* and Leila Zeinab Khan
Cleveland Clinic Foundation, Cleveland, OH
Background: Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by significant osseous fragility due to mutations in type 1 collagen. This condition paired with intestinal transplantation is a recipe for poor bone health and fractures. Visceral transplant recipients are at an extremely high risk for early and late deterioration of bone health after transplantation due to deleterious effects of chronic parenteral nutrition, gut failure, steroid use and high allointestine immunogenicity. This case highlights how fractures were kept to a minimum in a very high-risk patient after intestinal transplant using bisphosphonates.
Clinical Case: CN, a 26 year (yr) old female with OI Type 4 presented to our Endocrinology clinic at age 23 yrs for the management of metabolic bone disease. She was diagnosed with OI at age 12 yrs due to history of 40+ fractures (clavicular fracture at birth, tibial fracture at 8 months (mo) of age, fractures of hands/feet/ long bones and multiple vertebral compression fractures). Her last fracture occurred 9 mo prior to presentation to us. There was family history of OI only in a maternal second cousin. She underwent an isolated small bowel transplant in 2014 for chronic gastroparesis and diffuse intestinal dysmotility.
CN received IV pamidronate since age 12 yrs every 3-4 mo for bone pain with long off cycles. Bone pain used to resolve with pamidronate and fracture frequency also decreased. BMD in 2013 showed: Lumbar spine: 0.955 g/cm2, Z-score -1.3; Femoral Neck: 0.842 g/cm2, Z-score -1.1; Total Hip: 0.813 g/cm2, Z-score -1.1 (Lunar Prodigy). Pamidronate 60 mg Q3 mo was continued until her intestinal transplant, a year later.
Patient had been on total parenteral nutrition (TPN) for 4 yrs prior to the transplant and was receiving vitamin D and calcium supplementation through TPN. Patient was on high doses of steroids in the immediate post-transplant period, including steroids for possible acute rejection. Steroids were tapered down eventually to hydrocortisone 15 mg tid. Patient developed a compression fracture of T6, 5 mo after surgery during a seizure. BMD scan a month later (6 mo after transplant) showed a statistically significant decrease in BMD at all three sites: Lumbar spine: 0.874 ( Z-score -2.5); Femoral Neck: 0.660 (Z-score -2.7); Total Hip: 0.628 (Z-score -3.0). IV Pamidronate was restarted at 60 mg Q3 mo at this time.
Patient continued to receive pamidronate along with Vitamin D and calcium supplementation for the next 2 yrs with no new fractures and with improvement seen in the BMD at the spine, no change at the hip and decrease at the femoral neck: Lumbar spine: 0.919 (Z-score -2.2); Femoral Neck: 0.595 ( Z-score -3.2); Left Total Hip: 0.612 (Z-score -3.1). [All DXAs performed on same scanner]
Conclusion: This case draws attention to the remarkable ability of bisphosphonates to keep OI quiescent in a patient who underwent intestinal transplant.
Nothing to Disclose: JG, LZK