Orthopaedic Considerations for the Adult With Osteogenesis Imperfecta

Abstract

Osteogenesis imperfecta is a heritable group of collagen-related disorders that affects up to 50,000 people in the United States. Although the disease is most symptomatic in childhood, adults with osteogenesis imperfecta also are affected by the sequelae of the disease. Orthopaedic manifestations include posttraumatic and accelerated degenerative joint disease, kyphoscoliosis, and spondylolisthesis. Other manifestations of abnormal collagen include brittle dentition, hearing loss, cardiac valve abnormalities, and basilar invagination. In general, nonsurgical treatment is preferred for management of acute fractures. High rates of malunion, nonunion, and subsequent deformity have been reported with both closed and open treatment. When surgery is necessary, surgeons should opt for load-sharing intramedullary devices that span the entire length of the bone; locking plates and excessively rigid fixation generally should be avoided. Arthroplasty may be considered for active patients, but the procedure frequently is associated with complications in this patient population. Underlying deformities, such as malunion, bowing, rotational malalignment, coxa vara, and acetabular protrusio, pose specific surgical challenges and underscore the importance of preoperative planning.

Osteogenesis imperfecta

“…As the prevalence of osteogenesis imperfecta in adults is low, no disease specific treatment for the complications is currently available. Because of the ongoing risk of fractures 199,200 , it is important that patients have established relationships with adult orthopaedic surgeons who are familiar with osteogenesis imperfecta. Similar to patients with osteo porosis, adequate intake of calcium, maintenance of appropriate vitamin D levels and continued mobility are simple adjuncts to other medical interventions 201,202 .…”

Revision Total Hip Arthroplasty in Osteogenesis Imperfecta

“…However, in this patient group, the complication rate associated with hip arthroplasty is substantially higher than that of the general population, and implant longevity is diminished. 12 Therefore, prior to surgical intervention, it is imperative that several risk factors are considered, including the quality of the underlying bone, the alignment of the preoperative limb, and any abnormal pelvic or femoral anatomy. Further understanding of which patients require revision surgery can also help inform surgical planning and the management of this complex population, as well as providing for an adequate fund of knowledge to appropriately manage patient expectations.…”

Using humeral nail for surgical reconstruction of femur in adolescents with osteogenesis imperfecta

“…Preoperative planning for progressive left femoral deformity was discussed. The goal of treatment was rigid fixation with load-sharing intramedullary (IM) device[ 1 ]. The IM instrument options were K-wire, Rush pin, and telescoping IM device.…”

“…Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorders with the common clinical presentation of excessive bone fragility caused by mutations in collagen[ 1 ]. Clinical manifestations of OI are wide spectrum and could be vary from lethal forms in the perinatal period to the subtle forms, which could be hardly identified and comparable to a normal person.…”

“…The recommended surgical implant in OI was a load-sharing intramedullary (IM) device, with the largest diameter as possible, due to the better biomechanical property in fragile bone over plate construct[ 1 ] and avoid plate-related complications, such as bony resorption from stress shielding, implant failure, and subsequent fracture at the plate ending[ 5 , 6 ]. However, the surgical fixation in OI, especially in adolescent OI patients with femoral fracture or nonunion, are still problematic due to particular abnormal femoral anatomy (such as short limb, non-anatomical alignment secondary to previous injury, and narrow and non-linear medullary canal with superphysiologic bowing)[ 1 ] resulting in implant selection difficulty which was suitable for medullary canal size and bone length. Although there is an advanced surgical system, like a telescopic rod, which is specifically designed for OI patients with many different sizes that allow fixation in all age groups, this implant is not available everywhere, including our country.…”