BRITTLE BONE DISEASE BECOMES UNBREAKABLE WITH BISPHOSPHONATE INFUSION

Abstract

CASE
Osteogenesis imperfecta is a lifelong inheritable disease and currently has no definitive cure. A 32-year-old female born to a non-consanguineous couple of Filipino descent consulted for chronic back pain. The patient had a history of recurrent fractures on low-intensity trauma starting from her toddler years. She had an unremarkable family history and prenatal and perinatal courses. Physical examination noted short stature with greyish blue scleral hue, triangular face, no bowing of upper and lower extremities, and positive Adam’s forward bending test. Laboratory results showed normal serum levels of calcium, phosphorus, vitamin D, and PTH. Spine imaging showed thoracolumbar dextrolevoscoliosis. The patient was clinically diagnosed with Osteogenesis Imperfecta type I and was handled using a multidisciplinary approach composed of physical therapy, surgical interventions, genetic counseling, and bone-targeted therapy. Medical management was done using bisphosphonate therapy for 3 doses. Currently,  the patient has minimal back pain with no recurrence of fracture and the latest bone densitometry values are within the expected range for age.