Femur Fracture After a Misstep in Osteogenesis Imperfecta Complicated by Post-operative Anemia: A Case Report

Case Diagnosis: A 73-year-old female with a past medical history of osteogenesis imperfecta (OI), glaucoma, and Celiac disease presented with a right distal femur fracture after taking a large step and was found to have anemia likely related to OI.

Case Description or Program Description: A 73-year-old female with a past medical history of OI, glaucoma, and celiac disease presented with fractures of the right distal femur and the right 10th-11th ribs after taking a large downward step. The patient had an open reduction and internal fixation (ORIF) of the right femur with retrograde intramedullary nailing of the right femoral shaft with conservative treatment of the rib fractures. This fracture occurred while the patient was playing mini-golf and took a large step down, broke her femur, and hit her right elbow against a rock. The patient had evidence of a right proximal thigh hematoma and anemia secondary to anemia of chronic disease (ACD) and acute iron deficiency anemia (IDA) requiring blood transfusion, which the patient reports happened with past fractures. Of note, the patient had a history of ORIFs of the right proximal ulna and the right tibia plateau after previous fractures.

Setting: Tertiary Care Center.

Assessment/Results: At the time of discharge, the patient was able to ambulate 150 feet with a rolling walker.

Discussion (relevance): Osteogenesis imperfecta is a rare collagen disorder characterized by brittle bones at high risk for fracture. The patient had a unique presentation due to her traumatic fracture caused by a downward step. This patient’s rehabilitation course was also significantly complicated by post-operative anemia. The workup revealed the etiology may have been multifactorial between ACD and IDA. ACD has been implicated in OI with associated increased hepcidin levels. Further, postoperative hemorrhage has also been associated with OI due to platelet aggregation dysfunction secondary to the collagen dysfunction inherent to OI. Physiatrists must be aware of the risk of fractures in patients with OI and be prepared to manage these patients' unique co-morbidities including multifactorial anemia.

Conclusions: This case report was written to make physiatrists aware of the unique complications inherent to osteogenesis imperfecta.