Kyphoscoliosis, which is a common spinal disorder, affects approximately 1 in 1000 individuals, and about 1 in 10,000 affected individuals has a severe spinal deformity. Deformities include excessive spinal curvature in the coronal (scoliosis) and sagittal (kyphosis) planes as well as rotation of the spinal axis. Kyphoscoliosis can be idiopathic or can be secondary (paralytic) and associated with neuromuscular diseases, such as muscular dystrophy and polio. Idiopathic kyphoscoliosis, in which there may be a familial predominance, usually manifests in late childhood or early adolescence and involves females more than males with a ratio of 4:1. Although a defect in the chromatin-remodeling gene family (CHD7) has been associated with idiopathic kyphoscoliosis, other genes have also been identified. Kyphoscoliosis produces one of the most severe restrictive impairments of all the chest wall diseases. Total lung capacity and vital capacity may be reduced to as low as 30% of predicted values. This restrictive pathology becomes most severe as the degree of spinal angulation increases. The patients age, degree of spinal rotation, presence of respiratory muscle weakness, and involvement of the thoracic vertebrae are all factors that promote the restrictive process. Respiratory failure is a common cause of morbidity and mortality in patients with kyphoscoliosis. Clinical Manifestations Individuals with mild to moderate kyphoscoliosis may have complaints of back pain and have psychosocial problems as a result of their deformity. Adolescents with mild idiopathic kyphoscoliosis usually have normal exercise capacity, whereas those with moderate idiopathic kyphoscoliosis have reduced exercise capacity with additional exercise limitation due to deconditioning. With severe deformities, patients may experience dyspnea with minimal exertion or at rest. Severe kyphoscoliosis can be readily diagnosed on physical examination. Typical findings are the dorsal hump, which is due to the
angulated ribs and shoulder asymmetry, as well as the hip tilt that is related to the spinal rotation. In younger individuals with milder spinal deformities, the initial changes may be subtle. The Adams forward bend test, in which the examiner observes for thoracic or lumbar region asymmetry while the patient bends forward at the waist until the spine becomes parallel to the floor, can help detect minor deformities. With severe kyphoscoliosis, signs of right heart failure may be present such as cyanosis, distended neck veins, peripheral edema, and hepatomegaly. Individuals with kyphoscoliosis are particularly prone to hypoventilation during sleep, especially REM sleep. Because sleep-related abnormalities and their effects on cardiorespiratory function are potentially treatable, individuals with kyphoscoliosis should be evaluated for nocturnal hypoventilation well in advance of the development of daytime hypercapnia. Diagnosis Although spinal deformity is often readily apparent on physical examination, the degree of spinal deformity should be assessed by calculation of the angle of spinal curvature (the Cobb angle) from radiographs. This angle is formed by the intersection of lines parallel to the top and bottom vertebrae of the scoliotic or kyphotic curves (Fig. 99-1). Angles more than 100 degrees are usually associated with respiratory symptoms, and angles more than 120 degrees with respiratory failure. Factors associated with progression of the spinal deformity include inspiratory muscle weakness, a large spinal curvature at the time of presentation, skeletal immaturity, and a thoracic location of the curve apex. Individuals with inspiratory muscle weakness and kyphoscoliosis are more prone to develop respiratory failure than those with normal inspiratory muscle strength.
TREATMENT Patients should be encouraged to remain physically active to minimize peripheral muscle deconditioning. In addition, general supportive measures including immunizations against influenza and pneumococci, smoking cessation, maintenance of a normal body weight, and treatment of respiratory infections in a timely fashion should be instituted. Patients with severe kyphoscoliosis and Cobb angles of more than 100 degrees should be monitored closely for respiratory complications. Respiratory failure may be precipitated by respiratory infections or by medications that produce central nervous system depression. Nocturnal hypoventilation typically precedes findings of daytime hyper- capnia and hypoxemia and should be treated with NPPV. Indications for
instituting NPPV include symptoms of nocturnal hypoventilation or signs of cor pulmonale with either an elevated daytime PaCO2 or nocturnal oxygen saturation of less than 89% for 5 consecutive minutes. Supplemental oxygen will be needed if hypoxemia persists despite correction of hypoventilation. NPPV can reduce the number and duration of hospitalizations and improve gas exchange, daytime blood gases, quality of life, and survival (see Table 99-2). Surgical and nonsurgical (back-brace) treatments have been used in skeletally immature patients with idiopathic kyphoscoliosis in an effort to correct or prevent progression of the spinal deformity. Braces have been used for growing children with Cobb angles between 25 and 40 degrees, whereas surgery has been used for adolescents with a Cobb angle of more than 45 degrees. The overall role of surgical management in restoring function to that of nonscoliotic individuals and minimizing the possibility of respiratory failure is not clear. Prognosis Idiopathic kyphoscoliosis has a better prognosis than kyphoscoliosis secondary to neuromuscular diseases. In general, individuals with mild idiopathic kyphoscoliosis have an overall benign course. Patients with moderate or severe deformities are at higher risk of developing respiratory complications. In secondary kyphoscoliosis, factors such as an early age of onset, rapid curve progression during growth, progression of scoliosis after skeletal maturity, large curves at the time of presentation, and a thoracic rather than a thoracolumbar or lumbar location of the curve apex are risk factors for respiratory complications. Respiratory failure may occur in individuals with mild or moderate kyphoscoliosis owing to concurrent respiratory muscle dysfunction. Muscle strength should be evaluated in individuals with respiratory failure and Cobb angles of less than 100 degrees. When cor pulmonale develops, the prognosis is poor, and death may occur within 1 year without therapy.