Orthopaedic and somatic status in patients with osteogenesis imperfecta

Introduction Osteogenesis imperfecta (OI) is a group of rare and relatively diverse genetic disorders, characterized by frequent fractures, bone deformities, low bone mineral density and osteopenia. Frequent fractures, bone deformities, and nonunion are among orthopedic problems in OI patients. Varus deformity of the femoral neck, scoliosis, protrusion of the acetabulum, static deformities of the feet are considered separately. The main goal of surgical treatment of the limb deformities and fractures in OI patients is restoration and maintenance of their motor activity, autonomy and preservation of quality of life in severe OI types. The purpose of this study was to assess the deformities in the lower extremities and other accompanying orthopedic disorders, as well as the somatic status of patients with severe OI types (Sillence’s types III and IV) at the point of admission to operative orthopedic treatment. Material and methods Between 2003 and 2016, we examined 43 patients with severe OI (types III and IV) which were admitted for operative correction of deformities of the lower and upper extremities, nonunion, and varus deformity of the femoral neck. The average age at the time of admission was 14.4 ± 9.74 years (from 2 years 9 months to 46 years). Results Treatment of fractures was conservative in most cases; however, osteosynthesis with wires or flexible nails was used, followed by their removal in 4 patients; bone plates were applied in 4 patients; osteosynthesis with the Ilizarov apparatus was used in 3 cases, and intramedullary osteosynthesis with rigid rods in 4 patients. Regular administration of bisphosphonate preparations was conducted in 9 patients. Last dose of the drug was introduced at least 4 months before admission to surgical treatment. Thirteen patients had undergone reconstructive surgeries on the bones of lower extremities to correct the deformities. Conclusion Deformities of the lower limbs in patients with severe OI types are complex and multilevel, which implies the need for multilevel orthopedic interventions to correct them. High incidence of fractures and a complex nature of severe bone deformities result in the loss of the skills to move independently, or even its initial absence. Inadequate surgical interventions, untimely performed, non-telescopic nature of osteosynthesis, and absent bisphosphonate therapy contribute to the formation of additional orthopedic problems and aggravation of the loss of autonomy in such patients, which may complicate subsequent specific orthopedic surgical treatment.