Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta

Study Design. A cross-sectional radiologic and clinical study of patients w ith osteogenesis imperfecta. Objectives. To determine whether pulmonary compromise is more closely corre lated with scoliosis, kyphosis, or chest wail deformity in the population w ith osteogenesis imperfecta, and to assess the impact of spinal deformity, chest wall deformity, and pulmonary function on quality of life. Summary of Background Data. The incidence of scoliosis in osteogenesis impe rfecta is between 39% and 80%. Up to 60% of patients with osteogenesis impe rfecta have significant chest wall deformities. Pulmonary compromise is the leading cause of death in adults with osteogenesis imperfecta. Methods. Fifteen patients with osteogenesis imperfecta between the ages of 20 and 45 were evaluated with sitting or standing anteroposterior and later al radiographs of the entire spine, pulmonary function testing, and a valid ated health self-assessment questionnaire (Short Form-36). Radiographs were evaluated for thoracic scoliosis, thoracic kyphosis, and chest wall deform ity. Correlation analysis was performed. Results. Thoracic scoliosis was strongly correlated with decreased predicte d vital capacity (r = -0.76). Significant diminution in vital capacity belo w 50% occurred at a curve magnitude of 60 degrees. Kyphosis and chest wall deformity were not predictive of decreased pulmonary function. Physical hea lth (PCS) was closely correlated with predicted vital capacity (r = 0.65; P < 0.01) and with scoliosis (r = -0.52; P < 0.05). Conclusions. Thoracic scoliosis of more than 60 degrees has severe-adverse effects on pulmonary function in those with osteogenesis imperfecta. This f inding may partly explain the increased pulmonary morbidity noted in adult patients with osteogenesis imperfecta and scoliosis compared with that in t he general population.