Scoliosis, or the abnormal sideways curvature of the spine, is one of the most common symptoms of Ehlers-Danlos syndrome (EDS), the name given to a group of genetic disorders that result in defects in the body’s connective tissue.
EDS is categorized into 13 different types according to the gene that is mutated and the clinical symptoms. For many types of the disease, scoliosis is one of the hallmark symptoms. Kyphosis — an abnormal rounding of the spine to form a “hump” — also can occur.
Combined scoliosis and kyphosis typically are especially severe in kyphoscoliotic EDS, and usually are present at birth or appear within the first year of life.
Causes of scoliosis in EDS
While the exact cause of scoliosis and kyphosis is not known, in most cases, poor muscle tone and defective connective tissue contribute to its development. In general, spinal deformity occurs when weakened muscles cannot support the spinal column. It’s further exacerbated by defective connective tissue making one portion of the spinal column grow at a different rate than the rest. Postural problems also contribute to scoliosis and kyphosis.
Signs of scoliosis
Generally, the signs of scoliosis include uneven shoulders and/or an uneven waist, with the body leaning to one side and the ribs and head off-center relative to the hips and pelvis. During a physical exam, clinicians may have the patient bend at the waist so as to assess the shoulders and hips.
The characteristic signs of kyphosis are a visible hump on the back, differences in shoulder height, mild back pain, and the head bending forward. Other symptoms also may occur.
If the spinal curvature is severe, the spine can put abnormal compression on the chest cavity and the lungs, which may contribute to breathing problems.
Diagnosis of scoliosis
In general, scoliosis is diagnosed with a physical examination and imaging tests such as X-rays, spinal radiography, CT scans, or magnetic resonance imaging, known as MRI.
A specialist can determine the degree to which the spine is curved, also called the Cobb angle. A positive diagnosis of scoliosis refers to a curvature greater than 10 degrees. If the curvature exceeds 25 degrees, the scoliosis is considered significant. When the curvature is 45 degrees or more, scoliosis is considered severe and will usually require aggressive treatment such as surgery.
Management of scoliosis
While no treatment is guaranteed to correct scoliosis and/or kyphosis, a number of strategies can help to manage spinal abnormalities and prevent them from progressing. Management of spinal problems in EDS is tailored based on the condition of the individual patient.
Bracing and casting
For some patients, especially children and adolescents with moderate scoliosis whose bodies are still developing, wearing a brace or cast can help to prevent the spine from further curving out of alignment. There are a variety of different casts and braces available depending on the specific needs of the patient; generally, they are worn around the torso and help to stabilize the spine.
When scoliosis/kyphosis is severe, and especially if the curvature of the spine is causing breathing or heart problems, surgery may be recommended. There are several types of surgeries for scoliosis; as with any kind of surgery, these procedures carry risks, which should be discussed in-depth with patients and their providers and caregivers.
Some types of scoliosis surgery involve attaching expandable devices called growing rods to the spine using screws or hooks. The rods can be lengthened periodically, which could be every six months, to allow the growth of the spinal column. While traditional growth rods require more surgery for this lengthening, newer techniques use magnets so that additional surgery to adjust the length of the growing rods is not required.
A similar technique called VEPTR, for vertical expandable prosthetic titanium rib, uses rods that are surgically attached to the ribs, spine, or pelvis. The rod helps straighten the spine and aims to preserve respiratory function.
Another surgery sometimes used for scoliosis and/or kyphosis is spinal fusion, in which two or more vertebrae are fused together using so-called interbody devices — such as cages that trap bone materials and growth factors to stimulate bone growth — and sometimes screws, which helps to stabilize the spine and correct the deformity.
Last updated: Feb. 1, 2022, by Marisa Wexler MS
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