Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature

Abstract Background Osteopetrosis (OP) is a group of rare inheritable genetic disorders which show increased bone radiodensity on radiography. As no cure exists, careful symptomatic treatment is the mainstay in management due to brittle bone and frequent complications. We would like to present a case series of OP patients, their management, a review of literature about this rare disease and its genetic and inheritance patterns. Materials and methods Retrospective case series of 6 patients with OP seen at our institution from 2010 to January 2018. We searched PubMed and Google Scholar for articles using the following keywords: Osteopetrosis, Radiology, Fracture and Management to review literature. Cases presentation We present 6 cases of OP each showing diverse history of frequent fractures and describe the challenges faced during management and the long-term follow-up results. Results Abnormal osteoclast activity in OP results in defective bone resorption with patients having varied clinical presentations. Bones are brittle, increasing risk of fractures. Osteosynthesis is the recommended first-choice treatment for osteopetrotic fractures despite the risk of failure. Good preoperative planning is critical. Genetic studies showed multiple genes to be involved and varied patterns of inheritance in different types of OP. Conservative management could including varied therapies has also been proposed. Conclusion With all-inclusive preoperative planning and careful postoperative care surgical treatment of fractures in OP is effective. The cases presented showed that plate osteosynthesis and intramedullary nailing are suitable options. Genetic factors and inheritance pattern should be discussed with patients.