20 Orthopedic Issues in Ehlers-Danlos Syndrome

20 Orthopedic Issues in Ehlers-Danlos Syndrome: From Head to Toe

Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders that primarily affect the skin, joints, and blood vessel walls due to faulty collagen production. Orthopedic issues are among the most debilitating complications for individuals with EDS, largely due to the instability of joints, ligament laxity, and overall fragility of connective tissues. This article explores 21 common orthopedic issues experienced by EDS patients, with a focus on the specific conditions that affect the joints from head to toe. We’ll also dive into their symptoms, as well as both non-surgical and surgical treatment options.

Quick List of Orthopedic Issues in EDS

1. Temporomandibular Joint (TMJ) Dysfunction (Jaw)
2. Neck and Upper Spine Instability: Craniocervical Instability (CCI), Cervical Instability (CI), Atlantoaxial Instability (AAI)
3. Chiari Malformation and Cerebrospinal Fluid (CSF) Leaks
4. Shoulder Instability
5. Elbow Instability
6. Wrist Instability
7. Thumb and Finger Joint Issues
8. Thoracic Outlet Syndrome
9. Costochondritis
10. Slipping Rib Syndrome
11. Spinal Instability and Scoliosis
12. Sacroiliac Joint Dysfunction (SJD)
13. Hip Dysplasia and Instability
14. Hip Microinstability
15. Knee Instability
16. Shin Splints (Medial Tibial Stress Syndrome)
17. Ankle Instability
18. Foot Issues (Flat Feet, Bunions)
19. Peripheral Nerve Compression
20. Fascia-Related Issues

20 Orthopedic Issues in EDS: A deep dive into each

1. Temporomandibular Joint (TMJ) Dysfunction (Jaw)

• Problem: Joint laxity leads to jaw pain, clicking, and difficulty chewing.
• Non-surgical treatment: Splints, physiotherapy.
• Surgical treatment: TMJ arthroscopy or open surgery.

Detailed Explanation: Temporomandibular joint dysfunction is a common issue in EDS due to the laxity of the jaw joint, causing excessive movement, pain, and mechanical dysfunctions like clicking or popping sounds. This can result in difficulty chewing, jaw fatigue, and headaches. Non-surgical treatments, such as splints and physical therapy, can help stabilize the jaw and improve alignment. In severe cases, TMJ arthroscopy or open joint surgery may be necessary to realign the joint or repair damage.

2. Neck and Upper Spine Instability: Craniocervical Instability (CCI), Cervical Instability (CI), and Atlantoaxial Instability (AAI)

• Problem: Instability in the cervical spine, particularly in the craniocervical junction (CCI), cervical spine (CI), or between the first and second vertebrae (AAI), leading to excessive movement, pain, and neurological symptoms.
• Non-surgical treatment: Neck bracing, physical therapy, pain management.
• Surgical treatment: Fusion surgeries (craniocervical or cervical fusion, C1-C2 fusion for AAI).

Detailed Explanation: Craniocervical Instability (CCI) refers to excessive movement at the junction where the skull meets the cervical spine (occiput and C1), often causing compression of the brainstem and leading to severe neurological symptoms such as headaches, dizziness, vision disturbances, and balance issues. Craniocervical Instability is common in EDS, and it is also commonly discussed in the community. Cervical Instability (CI) affects any level of the cervical spine (C1 to C7), causing pain and sometimes nerve compression. Atlantoaxial Instability (AAI) is a specific form of instability between the first two cervical vertebrae (C1 and C2), which can also lead to neurological symptoms and pain.

Non-surgical treatments include neck bracing to limit movement, physical therapy to strengthen neck muscles, and pain management strategies. In more severe cases where neurological symptoms are present, surgical options like craniocervical fusion, cervical fusion, or C1-C2 fusion may be needed to stabilize the spine and prevent further damage to the spinal cord or brainstem.

3. Chiari Malformation and Cerebrospinal Fluid (CSF) Leaks

• Problem: Chiari malformation causes compression of brain tissue, and CSF leaks lead to intracranial pressure imbalances.
• Non-surgical treatment: Pain management, physical therapy, CSF leak repair via bed rest or blood patch.
• Surgical treatment: Decompression surgery for Chiari malformation, surgical repair for CSF leaks.

Detailed Explanation: Chiari malformation involves the displacement of brain tissue through the opening at the base of the skull, often compressing the brainstem and spinal cord. EDS patients are at increased risk of Chiari malformation due to lax connective tissues in the spine. CSF leaks, another common issue in EDS, occur when the protective lining around the brain and spinal cord tears, leading to headaches, dizziness, and neurological symptoms due to altered intracranial pressure. Treatment may include bed rest or blood patches to seal the CSF leak, or surgical repair in severe cases. Decompression surgery may be necessary to alleviate pressure caused by Chiari malformation.

4. Shoulder Instability

• Problem: Frequent dislocations due to ligament laxity.
• Non-surgical treatment: Physiotherapy, shoulder braces.
• Surgical treatment: Capsular shift or labral repair.

Detailed Explanation:The shoulder joint is highly mobile, and in EDS patients, lax ligaments can lead to frequent dislocations or subluxations of the shoulder. This results in chronic pain, reduced mobility, and difficulty with overhead or lifting activities. Non-surgical treatments include physical therapy to strengthen the rotator cuff muscles, helping to stabilize the shoulder, and the use of braces. In severe cases where dislocations are recurrent, surgical options like capsular shift or labral repair may be required to restore stability to the joint.

5. Elbow Instability

• Problem: Joint hypermobility leads to subluxations.
• Non-surgical treatment: Bracing, physical therapy.
• Surgical treatment: Ligament reconstruction.

Detailed Explanation: Elbow instability occurs when the ligaments in the joint are too lax to keep the bones properly aligned, leading to frequent subluxations and pain. Non-surgical treatments include bracing to support the joint and physical therapy to strengthen the surrounding muscles. If these methods fail, ligament reconstruction surgery may be necessary to restore stability to the elbow.

6. Wrist Instability

• Problem: Frequent sprains and difficulty with gripping.
• Non-surgical treatment: Wrist braces, therapy.
• Surgical treatment: Ligament stabilization.

Detailed Explanation: Wrist instability in EDS is caused by hypermobility of the ligaments, leading to frequent sprains and reduced grip strength. Bracing the wrist can prevent further injury, while physical therapy can help strengthen the muscles around the joint. In more severe cases, surgical intervention may be required to stabilize the ligaments and reduce pain.

7. Thumb and Finger Joint Issues

• Problem: Hyperextension and instability in fingers and thumb.
• Non-surgical treatment: Splints and ergonomic modifications.
• Surgical treatment: Joint stabilization or fusion.

Detailed Explanation: In EDS, the thumb and finger joints can be hypermobile, causing pain and instability, especially during fine motor tasks such as writing or gripping objects. Non-surgical treatments include the use of splints to prevent hyperextension and ergonomic tools to reduce strain during daily activities. Physical therapy can help improve strength and function. In cases where instability causes significant functional problems, surgery such as joint stabilization or fusion may be required to correct the deformities and improve hand function.

8. Thoracic Outlet Syndrome (Chest/Shoulders)

• Problem: Nerve compression causing arm pain and numbness.
• Non-surgical treatment: Physical therapy, posture training.
• Surgical treatment: First rib removal or decompression surgery.

Detailed Explanation: Thoracic Outlet Syndrome (TOS) in EDS patients occurs when hypermobility and poor posture cause compression of the nerves or blood vessels between the collarbone and first rib. This can lead to pain, numbness, and weakness in the arms and hands. Non-surgical treatments focus on improving posture through physical therapy and strengthening the muscles around the shoulder girdle to prevent compression. In more severe cases, surgical options like the removal of the first rib or decompression surgery may be required to relieve the pressure on nerves or blood vessels.

9. Costochondritis

• Problem: Inflammation of the cartilage connecting the ribs to the sternum, causing chest pain.
• Non-surgical treatment: NSAIDs, rest, physical therapy.
• Surgical treatment: Rarely needed; corticosteroid injections in severe cases.

Detailed Explanation: Costochondritis is an inflammation of the cartilage that connects the ribs to the sternum, causing sharp, localized chest pain that is often mistaken for heart issues. Costochondritis is common in EDS patients because of the fragility of their connective tissues. Non-surgical treatments typically include NSAIDs for pain and inflammation, rest, and physical therapy to reduce strain on the chest wall. In severe or persistent cases, corticosteroid injections may be used to alleviate inflammation. Surgery is rarely needed for this condition.

10. Slipping Rib Syndrome

• Problem: Instability of the lower ribs causes pain, clicking, and nerve impingement.
• Non-surgical treatment: Rest, NSAIDs, and physical therapy.
• Surgical treatment: Cartilage excision or rib stabilization.

Detailed Explanation: Slipping Rib Syndrome occurs when one or more of the lower ribs (typically the eighth to tenth ribs) become hypermobile, moving out of place and causing pain, clicking sensations, or nerve impingement. Slipping Rib Syndrome can be particularly common and painful in EDS patients due to their weakened connective tissue. Non-surgical treatments include rest, NSAIDs to manage pain and inflammation, compression garments, and physical therapy to strengthen muscles around the chest and rib cage. In severe cases where the ribs frequently slip, surgical options such as excision of the affected cartilage or rib stabilization procedures may be necessary.

11. Spinal Instability and Scoliosis

• Problem: Scoliosis and spinal instability cause back pain and deformity.
• Non-surgical treatment: Bracing and therapy.
• Surgical treatment: Spinal fusion or correction surgery.

Detailed Explanation: Spinal instability and scoliosis are common complications of EDS due to ligament laxity and poor connective tissue support. Scoliosis refers to an abnormal curvature of the spine, which can worsen over time and lead to back pain, fatigue, and postural deformities. Non-surgical treatments include bracing to support the spine and physical therapy to strengthen the core muscles, helping to stabilize the spine. In severe cases where the spinal curvature progresses or causes significant symptoms, spinal fusion or corrective surgery may be necessary to realign the spine and prevent further complications.

12. Sacroiliac Joint Dysfunction (SJD)

• Problem: Instability or misalignment of the sacroiliac joints, which connect the pelvis to the spine.
• Non-surgical treatment: Physical therapy, bracing, pain management.
• Surgical treatment: Sacroiliac joint fusion.

Detailed Explanation: Sacroiliac Joint Dysfunction (SJD) occurs when the sacroiliac joints, which connect the pelvis to the spine, become unstable or misaligned due to lax ligaments. This instability can lead to lower back pain, pelvic pain, and pain radiating into the legs. Non-surgical treatments include physical therapy to strengthen the muscles around the joint, bracing to limit movement, and pain management techniques like NSAIDs or injections. In severe cases, sacroiliac joint fusion surgery may be considered to provide lasting stability to the joint.

13. Hip Dysplasia and Instability

• Problem: Loose hip joints cause dislocations and early arthritis.
• Non-surgical treatment: Strengthening exercises and bracing.
• Surgical treatment: Hip stabilization or replacement.

Detailed Explanation: Hip dysplasia and instability are common in EDS due to lax ligaments that fail to support the hip joint properly. This can lead to frequent hip dislocations or subluxations and may cause early-onset arthritis. Non-surgical treatments include exercises to strengthen the muscles surrounding the hip and braces to provide additional stability. For patients with severe instability or joint damage, hip stabilization procedures or even total hip replacement may be necessary to restore function and reduce pain.

14. Hip Microinstability

• Problem: Subtle instability in the hip joint causing pain.
• Non-surgical treatment: Core strengthening and physical therapy.
• Surgical treatment: Hip stabilization surgery.

Detailed Explanation: Hip microinstability refers to the subtle looseness of the hip joint, which may not cause dislocations but can still lead to significant pain and discomfort. This is common in EDS due to weak connective tissues. Non-surgical treatments focus on strengthening the core and hip muscles through physical therapy, which can help stabilize the joint and reduce pain. In cases where non-surgical treatments do not relieve symptoms, surgical intervention may be necessary to tighten the supporting structures around the hip and reduce instability.

15. Knee Instability

• Problem: Knee joint laxity leading to patellar dislocations.
• Non-surgical treatment: Strengthening exercises and braces.
• Surgical treatment: Ligament reconstruction or patellar stabilization.

Detailed Explanation: Knee instability is a common problem in EDS patients due to lax ligaments, which can cause the patella (kneecap) to dislocate frequently. This leads to pain, instability, and difficulty with weight-bearing activities. Non-surgical treatments focus on strengthening the muscles around the knee (especially the quadriceps) and using braces to stabilize the joint. In severe cases where patellar dislocations are recurrent, surgical options such as ligament reconstruction or patellar stabilization may be necessary to correct the underlying instability and restore normal knee function.

16. Shin Splints (Medial Tibial Stress Syndrome)

• Problem: Pain along the inner edge of the shinbone, often due to overuse or biomechanical abnormalities.
• Non-surgical treatment: Rest, physical therapy, orthotics.
• Surgical treatment: Rarely needed, but fasciotomy in extreme cases.

Detailed Explanation: Shin splints, or medial tibial stress syndrome, are characterized by pain along the inner part of the shinbone and are common in physically active individuals. In EDS patients, this condition is often caused by improper biomechanics, such as flat feet or hyperpronation, which put excessive stress on the shinbone. Non-surgical treatments include rest, ice, physical therapy, and custom orthotics to correct foot alignment. Surgery is rarely required, but in extreme cases, a fasciotomy (cutting the fascia to relieve pressure) may be necessary.

I’ll continue with the remaining conditions in the following message.

17. Ankle Instability

• Problem: Frequent sprains due to ligament laxity.
• Non-surgical treatment: Ankle braces, physical therapy.
• Surgical treatment: Ligament reconstruction.

Detailed Explanation: Ankle instability is a common issue in EDS due to weakened ligaments, making the ankle joint prone to frequent sprains or rolling during walking or running. This instability can cause chronic pain and difficulty with mobility. Non-surgical management includes wearing ankle braces for support and engaging in physical therapy to strengthen the muscles around the ankle and improve balance. In cases where the instability is severe or recurrent, ligament reconstruction surgery may be required to restore proper joint function and prevent future injuries.

18. Foot Issues (Flat Feet, Bunions)

• Problem: Flat feet and bunions causing pain and gait issues.
• Non-surgical treatment: Orthotics and proper footwear.
• Surgical treatment: Bunionectomy or foot stabilization.

Detailed Explanation: EDS often leads to foot problems such as flat feet (pes planus) and bunions due to ligament laxity and improper alignment of the bones. Flat feet can cause pain and affect walking posture, while bunions can lead to joint deformities and pain at the base of the big toe. Non-surgical treatments include custom orthotics to support the arch and redistribute pressure, as well as the use of proper footwear. For severe bunions or cases of significant foot instability, surgical options like bunionectomy or foot stabilization procedures may be necessary.

19. Peripheral Nerve Compression

• Problem: Nerve compression due to joint instability, such as carpal tunnel or tarsal tunnel syndromes.
• Non-surgical treatment: Bracing, physical therapy.
• Surgical treatment: Decompression surgery.

Detailed Explanation: Peripheral nerve compression occurs when unstable joints in the hands or feet put pressure on nearby nerves. Common examples include carpal tunnel syndrome in the wrists or tarsal tunnel syndrome in the ankles. This can lead to pain, tingling, numbness, and weakness in the affected limbs. Non-surgical treatments involve wearing braces to reduce joint movement and engaging in physical therapy to improve the positioning of the joints and relieve pressure on the nerves. In cases where nerve compression is severe and non-surgical treatments do not provide relief, decompression surgery may be performed to release the pressure on the affected nerve and alleviate symptoms.

20. Fascia-Related Issues

• Problem: Loose or weak fascia leading to instability and pain.
• Non-surgical treatment: Fascia-focused therapies, such as manual therapy or fascial counterstrain.
• Surgical treatment: Fascia-related surgeries are rare but possible in severe cases.

Detailed Explanation: Fascia is the connective tissue that surrounds muscles, nerves, and organs, helping to provide structure and stability. In EDS, the fascia can be too loose or weak, leading to instability throughout the body, pain, and mobility issues. Non-surgical treatments often involve fascia-focused therapies, such as fascial counterstrain, myofascial release, or other manual therapy techniques aimed at improving the function and elasticity of the fascia. These therapies can help reduce pain and improve movement by addressing fascial restrictions and imbalances. While fascia-related surgeries are rare, they may be considered in extreme cases where other treatments have failed to alleviate symptoms.

‍

Managing Orthopedic Complications in Ehlers-Danlos Syndrome: Treatment Approaches and Final Thoughts

Ehlers-Danlos Syndrome (EDS) is a complex disorder with far-reaching consequences, particularly in the musculoskeletal system. The main issue underlying most orthopedic complications in EDS is joint hypermobility and connective tissue fragility. This leads to problems like joint instability, frequent dislocations, chronic pain, and, in more severe cases, nerve compression or damage. Chronic pain is a hallmark feature of EDS orthopedic issues, arising from repetitive joint dislocations, muscle strain, and ligament laxity. Managing this pain can be particularly challenging because conventional treatments may not work as effectively in EDS patients due to the unique structure and behavior of their connective tissues.

Instability and pain can affect virtually every joint in the body, from small finger joints to larger, weight-bearing joints like the hips and knees. Instability also extends beyond joints, affecting the spine, ribcage, and connective tissues around nerves, leading to a broad range of symptoms. These orthopedic complications, especially in neck and spine, can cause or exacerbate symptoms of other conditions like POTS, MCAS, and ME/CFS. Some ME/CFS researchers have even proposed the mechanical basis theory which suggests that orthoopedic instability is one of the main causes of ME/CFS. Although Ehlers-Danlos Syndrome is traditionally defined as a genetic disease affecting collagen, the truth is actually less clear. The compex interaction between orthopedic instability, immune dysfunction, and nervoous system dysregulation is still poorly understood, but it's certainly more complex than the chicken and the egg.

Treatment Options for EDS Orthopedic Issues

For most orthopedic problems in EDS, the primary approach is non-surgical management, including:

• Physical Therapy: Central to EDS care, physical therapy aims to strengthen muscles around the joints to improve stability and function. However, therapy must be carefully tailored to avoid overstretching, as EDS patients are more vulnerable to joint damage.
• Bracing and Splinting: Supporting joints with braces or splints helps prevent further dislocations and provides essential stability. These tools are often part of long-term management for joint hypermobility.
• Pain Management: Treatments may range from NSAIDs to more advanced techniques like nerve blocks or corticosteroid injections. Many patients also find relief from heat therapy, gentle massage, alternative therapies such as acupuncture, and prolotherapy.
• Lifestyle Modifications: Adapting daily activities to reduce joint strain and prevent injury is crucial. These modifications might include posture adjustments, changing exercise routines, or using assistive devices like canes or walkers.

In certain cases, surgical intervention may be necessary when non-surgical treatments fail to provide sufficient relief or when the structural integrity of joints or the spine is severely compromised. Surgeries can include ligament reconstruction, joint stabilization procedures, or joint replacements in advanced cases of arthritis. However, surgery in EDS patients is approached cautiously due to the risk of poor wound healing, fragile tissues, and other complications. A thorough evaluation by a multidisciplinary team experienced in managing connective tissue disorders is essential before proceeding with surgery.

Final Thoughts

The orthopedic complications of EDS represent some of the most challenging aspects of the condition. From neck and upper spine instability to joint hypermobility in the hands and feet, every region of the body can be affected, leading to chronic pain, functional limitations, and a reduced quality of life. Managing these issues requires a balance between conservative treatments like physical therapy and bracing, and surgical options reserved for the most severe cases.

Collaboration with a multidisciplinary team—including rheumatologists, orthopedic surgeons, physical therapists, and pain management specialists—is key to developing a personalized treatment plan. This comprehensive approach aims to manage symptoms, prevent further joint damage, and improve overall well-being.

With the right care, lifestyle adjustments, and support, many individuals with EDS can manage their symptoms and lead more active, fulfilling lives despite the challenges posed by this connective tissue disorder.

‍

References

1. Ericson, William B. Jr., and Roger Wolman. "Orthopaedic Management of the Ehlers–Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 188-194. https://doi.org/10.1002/ajmg.c.31549.
2. Tinkle, Benjamin T., et al. "Hypermobile Ehlers-Danlos Syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos Syndrome Hypermobility Type): Clinical Description and Natural History." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 48-69. https://doi.org/10.1002/ajmg.c.31538.
3. Henderson, F. Christopher, 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.31552.
4. Ericson, William B., and Roger Wolman. "Orthopaedic Manifestations of the Ehlers-Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 231-238. https://doi.org/10.1002/ajmg.c.31555.
5. Mitakides, Joseph, and Timothy J. Tinkle. "Oral and Mandibular Manifestations in the Ehlers-Danlos Syndromes." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 192-198. https://doi.org/10.1002/ajmg.c.31551.
6. Seneviratne, Sunethra L., et al. "Pain Management in the Ehlers-Danlos Syndromes and Hypermobile Spectrum Disorders." American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol. 175, no. 1, 2017, pp. 212-219. https://doi.org/10.1002/ajmg.c.31554.
7. Gress, Kyle, et al. "A Comprehensive Review of Slipping Rib Syndrome: Treatment and Management." PsychoPharmacology Bulletin, vol. 50, no. 4, 2020, pp. 189-196. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7516735/.
8. "Surgery in Ehlers-Danlos Syndrome: Risks, Considerations, and Recovery." The EDS Clinic, Aug. 2024, www.eds.clinic/articles/surgery-in-eds-risks-considerations-recovery.
9. "Are Costochondritis and Ehlers-Danlos Syndrome Linked?" The EDS Clinic, Sept. 2024, www.eds.clinic/articles/costochondritis-and-ehlers-danlos-syndrome.