What is Ehlers-Danlos Syndrome (EDS)?

From the Guidelines

Ehlers-Danlos Syndrome (EDS) patients, particularly those with the vascular form, should undergo noninvasive vascular imaging to monitor for potential arterial ruptures or aneurysms, as invasive imaging has been associated with fatal complications 1. The vascular form of EDS is a rare autosomal dominant disorder characterized by easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or intestines. Key considerations in managing EDS include:

• Avoiding invasive vascular imaging due to the risk of fatal complications 1
• Utilizing noninvasive imaging techniques to monitor for arterial ruptures or aneurysms
• Careful handling of tissues and resewing of anastomoses with pledgeted sutures during surgical repair of ruptured arteries or aneurysms 1
• Multidisciplinary team management, including rheumatologists, geneticists, cardiologists, and physical therapists, to address the various aspects of the condition The diagnosis of vascular EDS is based on DNA or protein studies identifying a defect in type III collagen, encoded by the COL3A1 gene 1. In terms of specific management strategies:
• Physical therapy to strengthen muscles around unstable joints
• Pain management with medications like acetaminophen or NSAIDs for mild pain, and potentially stronger medications like tramadol for severe pain
• Avoiding activities that put excessive strain on joints and using braces or splints to stabilize affected joints
• Regular cardiovascular exercise that doesn't strain joints, such as swimming or recumbent biking
• Closing wounds without tension using paper tape or specialized wound closure strips to address skin fragility Early diagnosis and proper management can significantly improve quality of life and prevent complications in patients with EDS.

From the Research

Overview of Ehlers-Danlos Syndrome

• Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary disorders of connective tissue, characterized by joint hypermobility, soft and hyperextensible skin, abnormal wound healing, and easy bruising 2.
• There are 14 different types of EDS, with the molecular cause known for 13 types, and the hypermobile type of EDS having unknown molecular underpinnings 2.

Treatment Options for EDS

• The proposed treatments for the various musculoskeletal pain syndromes in EDS have had variable success, and it is imperative to better define and evaluate the current treatment modalities 3.
• Treatment options for EDS include complimentary/alternative treatments, opioids/opioid-like medications, nonsteroidal anti-inflammatory drugs, physical therapy, occupational therapy, muscle relaxants, neuropathic modulators, steroids, surgery/procedures, and acetaminophen 3.
• Occupational therapy and bracing were found to be the most effective options, with 70% of patients reporting improvement 3.
• Neuropathic modulators were the least well tolerated, with 47% of patients reporting adverse effects 3.

Pain Management in EDS

• Patients with EDS often experience a diverse range of acute and chronic pain conditions throughout their lifetime, making it difficult to develop structured treatment protocols 4.
• Historically, medications and surgery have been used to treat patients with EDS, but with low efficacy 4.
• Newer therapies that have shown promising effects for both decreasing pain and increasing quality of life include physical/occupational therapy, transcutaneous electrical nerve stimulation units, trigger point injections, low-dose naltrexone, and laser therapy 4.
• Addressing the psychosocial aspects of pain with EDS through methods like cognitive behavioral therapy and patient education has shown to be vital in minimizing pain 4.

Use of Complementary Therapies in EDS

• Complementary and alternative therapies are widely used by patients with EDS, with 56% of participants reporting their use 5.
• The most commonly reported therapies used by patients with EDS were non-steroidal anti-inflammatory drugs, acetaminophen, opioids, and physical therapy 5.
• Therapies rated by participants as most efficacious were opioids, physical therapy, and marijuana, with 10-24% of those using these therapies rating them as extremely helpful 5.

Challenges in Managing EDS-Related Chronic Pain

• Diagnosing EDS is difficult due to symptom overlap with other connective tissue disorders 6.
• Chronic pain in EDS involves both nociceptive and neuropathic pain, necessitating a comprehensive pain management approach 6.
• Opioids should be used cautiously in EDS patients because of connective tissue vulnerabilities and potential side effects 6.
• A comprehensive approach, incorporating non-opioid medications, physical therapy, and psychological support, can offer effective pain relief and improve the quality of life for those living with EDS 6.