Ehlers-Danlos syndrome (EDS) is the name given to a group of connective tissue disorders caused by mutations in genes that encode for collagen or collagen-associated proteins. Collagen is a major component of the connective tissue that provides strength and support to all organs. EDS is categorized into 13 different types according to the gene that is mutated and the clinical symptoms.

Scoliosis, or the abnormal sideways curvature of the spine, is one of the most common symptoms in many types of EDS and is especially severe in kyphoscoliotic EDS.

Causes of scoliosis in EDS

While the exact cause of scoliosis is not known in most cases, poor muscle tone or strength and defective connective tissue contribute to its development. In general, spinal deformity occurs when weakened muscles cannot support the spinal column and is 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.

Signs of scoliosis and kyphosis

Generally, the signs of scoliosis are:

  • uneven shoulders.
  • head not aligned along the center of the pelvic axis.
  • raised hips (one or both).
  • uneven waist.
  • rib cages at different heights.
  • body leaning to one side.

The characteristic signs of kyphosis are a visible hump on the back, rounded shoulders, mild back pain, spine stiffness, among others.

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.

An orthopedic doctor 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, scoliosis is considered significant. When the curvature is 45 degrees or more, scoliosis is severe and will require aggressive treatment such as surgery.

Surgery may be required when scoliosis compresses the organs in the chest cavity, especially the lungs, and leads to breathing issues.

Management of scoliosis

Physiotherapy

In general, scoliosis-specific physiotherapy can help halt or slow down the worsening of scoliosis. A physiotherapist can suggest the right exercises to improve overall muscle tone, which can delay scoliosis.

Bracing

Bracing is generally recommended for patients with a curvature between 20 and 40 degrees. It’s more effective in patients who have not reached skeletal maturity and can delay the progression of scoliosis. A physician can recommend different kinds of braces based on the requirements of the patient.

Casting

The best known and recommended method of casting is using serial Risser casts, which involves a series of casts around the body extending from just under the armpit all the way down to the waist, with straps that go over the shoulders. This method can help correct the spine better than bracing and has been shown to allow the spine to grow more normally. Patients may need casts for several months or years, depending on their condition.

Surgery

Surgical intervention is required when the curvature of the spine exceeds 45 degrees, and patients start developing heart or respiratory issues. Several kinds of surgeries are available to correct scoliosis but they carry risks for patients, such as bleeding issues, nerve damage, infections, respiratory problems, and other issues.

Growing rods

Growing rods are expandable devices that are attached to the top and base of the spine using screws or hooks. The rods can be lengthened by about one centimeter periodically, generally every six months, to allow the growth of the spinal column. When the device reaches its maximal length, further surgery may be required to introduce a newer set of growing rods.

Magnetically controlled growing rods

Magnetically controlled growing rods are special types of growing rods that can be controlled using a magnet. Therefore, additional surgery to adjust the length of the growing rods is not required.

Vertical expandable prosthetic titanium rib (VEPTR) technique

The VEPTR technique, similar to the growing rods technique, straightens the spine and separates the ribs to prevent respiratory problems. As with growing rods, small adjustments are required periodically to allow for growth.

Spinal fusion

In spinal fusion, two or more vertebrae are fused together with bone grafts and devices such as metal rods to stabilize the spine and correct the deformity. Currently, several sophisticated fusion techniques and new instrumentation are available to surgically correct spinal curves and improve the recovery process for patients. These include new endoscopic procedures that allow specialists to access the spine through the chest cavity and perform the fusion with three or four small incisions.

Other information

None of these treatments is guaranteed to completely correct scoliosis. Therefore, patients need to weigh the pros and cons of each option, especially surgery with its inherent risks.

 

Last updated: Oct. 29, 2019

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Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.