The orthopaedic management of long bone deformities in genetically and acquired generalized bone weakening conditions

Abstract

PurposeDiseases such as osteogenesis imperfecta, fibrous dysplasia, hypophosphataemic rickets and others lead to soft and weak bones and long bone deformity in affected patients. As a consequence, these patients lose their walking capacity and functional abilities of the upper extremities as well.MethodsIn combination with bisphosphonate treatment and physical rehabilitation programmes surgical interventions are being applied to correct and stabilize the deformed and less mechanically resistant long bones. Intramedullary devices, ideally with an elongating telescopic mechanism, have proven to be the most suitable implants.ResultsThe surgical correction and stabilization of deformed bones in weak bone diseases is very beneficial to the patients. Pain restriction, reduction of fracture events, minimization of consequences of traumatic events and falls have resulted in a significant functional improvement. The patients live on a better activity level with a much-improved individual independence. Despite a high complication and revision rate of the intramedullary rods the gain of quality of life outweighs these negative aspects by far.ConclusionOrthopaedic surgical treatment for deformed bones in patients with weak bone diseases has changed the life of the patients and plays a very important role in the disease management protocols. This paper was written under the guidance of the Study Group Genetics and Metabolic Diseases of the European Paediatric Orthopaedic Society.

Intraoperative Hardware Failure of the Fassier–Duval Rescue System in a Pediatric Patient with Osteogenesis Imperfecta

“…Bisphosphonates remain the mainstay of medical treatment for these patients [10][11][12]. e orthopaedic surgical management utilizing intramedullary fixation to treat long bone deformity and prevent future fractures has been thoroughly described and has demonstrated successful long-term clinical and radiographic outcomes [1,3,5,13]. Unfortunately, the intramedullary fixation of long bones in children with osteogenesis imperfecta has also demonstrated high rates of complication and reoperation [14].…”

“…Sofield and Millar were the first to publish their experience with intramedullary rods in patients with osteogenesis imperfecta [1][2][3][4]. Since that time, the surgical treatment of osteogenesis imperfecta has significantly progressed.…”

Osteogenesis imperfecta—pathophysiology and therapeutic options

“…During growth, intramedullar telescopic rods should be inserted. These elongate during growth and can support the bones for many years [29]. It should be noted that fractures in patients with classical OI caused by mutations in COL1A1/2 heal just as quickly as in non-affected individuals, and therefore, prolonged immobilization is not required.…”

“…During growth, intramedullar telescopic rods should be inserted. These elongate during growth and can support the bones for many years [ 29 ].…”

The use of bisphosphonates to meet orthopaedic challenges

“…Bisphosphonates are potent bone anti-resorptive agents that have become the mainstay of treatment for post-menopausal osteoporosis and other conditions associated with pathological bone loss and increased bone turnover. The effect of bisphosphonates for inhibiting osteoclast activity has also made them of interest as a possible solution for diseases that are usually treated by orthopaedic surgery [1][2][3][4][5]. Their use has also been explored to treat conditions that arise as an adverse effect of orthopaedic surgical intervention [6].…”