Osteopetrosis and fracture: planning and management

Abstract

<ns3:p>Introduction Osteopetrosis (OP) is a rare genetic disorder characterized by increased bone density. Monitoring is the only alternative in these patients because of bone fragility, which is a source of frequent complications. This study aimed to describe the fracture profile, possible complications, and management in this group of patients. Material and methods We conducted a retrospective, descriptive study including 21 fractures in 8 OP patients managed in our department between 1996 and 2022, with a minimum follow-up of 2 years. Patient data included age, sex, history of surgery, fractures, intraoperative difficulties encountered, and complications. Results All of our patients were young adults with a mean age of 28.4 years and an M/F ratio of 3:1. A total of 21 fractures (8 patients with OP) were managed in our department. The femur was the most frequent fracture site. The management of these fractures is surgical. Plate osteosynthesis is the most common indication. Three fractures were treated by orthopaedics. There were high rates of intraoperative and post-operative complications. Discussion Fractures in patients with OP often involve the long bones. As this is a rare disease, there are few studies on the appropriate management of fractures in this population. Most studies are case series with a small number of cases. Osteosynthesis is the recommended treatment for these fractures despite the risk of failure. Therefore, effective preoperative planning is essential. Great care must be taken when synthesizing these fractures to avoid intraoperative complications. Conclusion Fractures in patients with osteopetrosis present a challenge to orthopaedic surgeons. Planned surgery enables the appropriate synthesis of fractures. Long-term follow-up is essential for these patients to detect complications at an early stage.</ns3:p>