Scoliosis and Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders that affects the body in many ways, including the spine. One of the complications that often arises in people with EDS is scoliosis, a condition that causes the spine to curve abnormally. This article will explore the relationship between EDS and scoliosis, what it means for those affected, and the treatment options available.

What is Scoliosis?

Scoliosis is a condition that causes a sideways curvature of the spine, typically in the shape of a "C" or "S." It can be classified as either functional or structural. Functional scoliosis results from muscle imbalances or differences in limb length and may resolve once the underlying issue is treated. Structural scoliosis, which is more common in EDS, involves a fixed spinal curve and often requires more intensive management. The curvature can range from mild to severe and may include a rotational component that twists the spine three-dimensionally​​.

Scoliosis and EDS: A Common Pairing

In individuals with Ehlers-Danlos Syndrome, scoliosis is not uncommon, especially in certain types of the condition. The hypermobility and classical forms of EDS (hEDS and cEDS) are frequently associated with mild forms of scoliosis, while more severe deformities are seen in rarer types like kyphoscoliotic EDS (kEDS)​.

The primary reason scoliosis occurs in EDS is due to the laxity of connective tissues—the same tissues that provide structure and support to the joints and spine. People with EDS have weakened ligaments and muscles, which struggle to maintain the normal alignment of the spine. Over time, this instability can lead to the development or worsening of scoliosis​. Additionally, spinal deformities in EDS can progress rapidly during growth spurts, particularly in adolescence​.

Prevalence of Scoliosis in EDS

Scoliosis is common across various subtypes of EDS. For instance, in a study of individuals with hypermobile EDS (hEDS), scoliosis was found in about 29% of participants, with most cases being mild. However, in more severe types like kyphoscoliotic EDS, the spinal curvature can be significant, often appearing early in life and requiring surgical intervention​.

Symptoms of Scoliosis in EDS

The symptoms of scoliosis in EDS can vary widely depending on the severity of the spinal curvature. Some common symptoms include:

• Postural changes, such as uneven shoulders or hips
• Back pain, especially in cases of more pronounced curves
• Limited mobility due to muscle weakness or stiffness
• Breathing difficulties in severe cases where the spinal curve compresses the chest cavity

These symptoms can greatly affect daily life, particularly in individuals with EDS, who may already experience other musculoskeletal issues​​.

Diagnosing Scoliosis in EDS

Diagnosis typically begins with a physical exam where a doctor will check for visible signs of scoliosis, such as uneven shoulders, ribs, or hips. They may also use the Adam's forward bend test, where the patient leans forward while the doctor looks for asymmetries in the back​.

If scoliosis is suspected, imaging tests like X-rays or MRI scans are usually required to measure the curvature of the spine. The Cobb angle, which measures the degree of spinal curvature, is a key factor in determining the severity of scoliosis. A curve greater than 10 degrees is considered scoliosis, and curves over 40 to 50 degrees often require more aggressive treatment​.

Management and Treatment Options

Treatment for scoliosis in EDS patients depends on the severity of the curve and the impact it has on quality of life. Options may include:

1. Physical Therapy: This can help strengthen the muscles around the spine, improving posture and stability. Techniques like the Schroth Method, which focuses on scoliosis-specific exercises, are often recommended​.
2. Bracing: In growing children and adolescents, wearing a brace may help prevent further progression of the curve. Bracing can be effective in mild to moderate cases, though its success in syndromic scoliosis (like that seen in EDS) can vary​.
3. Pain Management: Managing pain with physical therapy, medication, and sometimes lifestyle modifications is crucial, as scoliosis in EDS can exacerbate discomfort from joint instability and muscle weakness​.
4. Surgical Intervention: In severe cases, surgery may be required to correct the spinal curvature and prevent further complications. Surgery, however, carries higher risks in EDS patients due to the fragility of connective tissues, making it a complex decision that must be carefully weighed​​.

Challenges in Treating Scoliosis with EDS

The fragility of tissues in EDS patients presents unique challenges for treating scoliosis. Surgical procedures, for example, come with a high risk of complications, including excessive bleeding and poor wound healing​. Additionally, the results of bracing and physical therapy can be less predictable in EDS than in other forms of scoliosis, as the underlying connective tissue issues complicate treatment​.

Conclusion

Scoliosis is a common complication in individuals with Ehlers-Danlos Syndrome, particularly in those with more severe subtypes of the condition. Although it can range from mild to severe, it often requires comprehensive treatment plans tailored to the individual, focusing on symptom management, physical therapy, and, in some cases, surgery. By understanding the unique challenges presented by scoliosis in EDS, patients and healthcare providers can work together to manage symptoms and improve quality of life.

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FAQ

Are EDS and scoliosis related?

Yes, scoliosis is commonly seen in individuals with Ehlers-Danlos Syndrome (EDS), particularly in those with certain subtypes like hypermobile EDS (hEDS) and kyphoscoliotic EDS (kEDS). The connective tissue abnormalities in EDS, such as weakened ligaments and muscles, lead to spinal instability, which can result in scoliosis. The severity of scoliosis can vary from mild to severe, depending on the individual and the specific type of EDS they have.

What spinal problems do people with Ehlers-Danlos Syndrome have?

People with Ehlers-Danlos Syndrome often experience various spinal problems, including scoliosis, early disc degeneration, and hypermobility of the spine. Other common issues are Chiari malformation (where part of the brain presses on the spinal cord), craniocervical instability (instability where the skull meets the spine), and kyphosis (an excessive forward curvature of the spine). Musculoskeletal pain is also common and can start early in life, often becoming chronic.

What connective tissue disorders are associated with scoliosis?

Several connective tissue disorders are associated with scoliosis. Besides Ehlers-Danlos Syndrome, other conditions include Marfan Syndrome, Loeys-Dietz Syndrome, and Osteogenesis Imperfecta. These disorders cause connective tissue weakness, which can lead to spinal deformities such as scoliosis.

Is scoliosis common in Ehlers-Danlos Syndrome?

Yes, scoliosis is relatively common in individuals with EDS. Research suggests that about 30% of people with hypermobile EDS (hEDS) have scoliosis. In more severe types, such as kyphoscoliotic EDS (kEDS), scoliosis can be progressive and may require medical intervention, such as bracing or surgery, to manage the condition.

Can a connective tissue disorder cause scoliosis?

Yes, connective tissue disorders can cause scoliosis. Disorders like EDS, Marfan Syndrome, and Loeys-Dietz Syndrome affect the structure and strength of connective tissues, which can lead to spinal instability and the development of scoliosis. The weakened connective tissues around the spine struggle to maintain proper alignment, causing it to curve abnormally.

What syndrome is associated with scoliosis?

Several syndromes are associated with scoliosis, including Ehlers-Danlos Syndrome, Marfan Syndrome, and Loeys-Dietz Syndrome. These conditions involve connective tissue abnormalities, which increase the risk of spinal deformities like scoliosis.

What are the secondary conditions of Ehlers-Danlos Syndrome?

In addition to spinal problems like scoliosis, people with EDS may develop secondary conditions such as joint dislocations, chronic pain, early-onset osteoarthritis, muscle weakness (hypotonia), gastrointestinal disorders like inflammatory bowel disease, and cardiovascular issues like mitral valve prolapse. Some individuals may also experience hearing loss or poor wound healing due to the fragility of their connective tissues.

What are the spinal problems with Ehlers-Danlos Syndrome?

‍EDS can cause scoliosis, disc degeneration, kyphosis, and instability in the neck and spine.

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References

• Henderson, Fraser C., et al. "Neurological and Spinal Manifestations of the Ehlers-Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 195–211. https://doi.org/10.1002/ajmg.c.31549
• Uehara, Masashi, et al. "Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type." Genes, vol. 14, no. 6, 2023, p. 1173, https://doi.org/10.3390/genes14061173.
• Negrini, Stefano et al. “2016 SOSORT guidelines: orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth.” Scoliosis and spinal disorders vol. 13 3. 10 Jan. 2018, doi:10.1186/s13013-017-0145-8
• National Institute of Arthritis and Musculoskeletal and Skin Diseases. "Scoliosis in Children and Teens: Diagnosis, Treatment, and Steps to Take." NIAMS, 2022, https://www.niams.nih.gov/health-topics/scoliosis/diagnosis-treatment-and-steps-to-take.
• Gillas, Florencia, et al. "Prevalence of Scoliosis in Hypermobile Ehlers-Danlos Syndrome." European Medical Journal, 2021, pp. 1-8.
• Czaprowski, Dariusz, et al. "Joint Hypermobility in Children with Idiopathic Scoliosis: SOSORT Award 2011 Winner." Scoliosis, vol. 6, no. 1, 2011, p. 22, doi:10.1186/1748-7161-6-22
• Fadzan, Maja, and Josette Bettany-Saltikov. “Etiological Theories of Adolescent Idiopathic Scoliosis: Past and Present.” The Open Orthopaedics Journal, vol. 11, 2017, pp. 1466-1489, doi:10.2174/1874325001711011466.

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