Living with Hypermobile Ehlers-Danlos Syndrome (EDS): Challenges, Management, and Hope

Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders that affects multiple systems within the body. While often recognised for its impact on joint hypermobility and musculoskeletal issues, EDS is far more complex, influencing neurological, cardiovascular, gastrointestinal, and immune functions. This multisystemic nature poses unique challenges in both diagnosis and treatment, necessitating a holistic approach to management (Wu & Ho, 2024).

The Multisystem Nature of EDS

EDS is primarily caused by genetic mutations affecting collagen synthesis and structure, resulting in weakened connective tissue throughout the body (Hakim, 2024). The musculoskeletal system bears a significant burden, with joint instability, chronic pain, and early-onset osteoarthritis being common complaints. However, the dysfunction extends beyond the joints, impacting other bodily systems.

Neurological complications, such as cranio-cervical instability and Chiari malformation, are prevalent in some EDS subtypes, leading to headaches, neuropathic pain, and autonomic dysfunction (Francomano et al., 2024). The cardiovascular system is also affected, with individuals experiencing conditions like Postural Orthostatic Tachycardia Syndrome (POTS), which disrupts heart rate regulation (Wu & Ho, 2024). Gastrointestinal issues, including gastroparesis and irritable bowel syndrome, are widespread, often exacerbating nutritional deficiencies that further weaken connective tissues (Jacobs et al., 2018). Additionally, immune dysfunction and conditions such as Mast Cell Activation Syndrome (MCAS) can lead to systemic inflammation and allergic-like reactions (Hakim, 2024).

Due to this complex interplay of symptoms, EDS is often misdiagnosed or overlooked, with patients frequently enduring a diagnostic journey spanning over a decade (Trudgian & Flood, 2024). This diagnostic delay can contribute to physical deterioration, mental health struggles, and an increased risk of secondary complications.

Evaluating the Best Treatment Pathway

Given the multisystemic nature of EDS, the most effective treatment pathway is multidisciplinary and individualised. While there is no cure, targeted interventions can significantly improve quality of life and prevent further deterioration (Higo et al., 2024).

1. Conservative Management: A First-Line Approach

Physiotherapy plays a critical role in managing joint hypermobility and instability. A tailored program focusing on core stabilisation, proprioceptive training, and strength-building helps support lax joints and reduce pain (Higo et al., 2024). Low-impact exercises such as Pilates, hydrotherapy, and resistance training are recommended to enhance muscle function without exacerbating joint instability (Jacobs et al., 2018).

Pain management requires a multimodal approach. Standard pain relief methods, such as nonsteroidal anti-inflammatory drugs (NSAIDs), must be used cautiously due to their potential to worsen gastrointestinal symptoms. Instead, neuropathic pain medications like gabapentin and amitriptyline are often preferred (Francomano et al., 2024). Manual therapy and soft tissue techniques can also help, though excessive stretching should be avoided to prevent further joint laxity (Higo et al., 2024).

Occupational therapy is beneficial in ergonomic adaptations, assistive devices, and pacing strategies. Custom bracing and splints may be necessary to stabilise particularly vulnerable joints, reducing dislocations and injury risk (Jacobs et al., 2018).

2. Managing Associated Comorbidities

Autonomic dysfunction, particularly POTS, requires careful management. Beta-blockers such as propranolol can help regulate heart rate fluctuations, while increased salt and fluid intake, compression garments, and graded exercise therapy support blood circulation (Wu & Ho, 2024).

Gastrointestinal dysfunction, including gastroparesis and reflux, should be addressed through dietary modifications, prokinetic agents, and lifestyle changes. Patients often benefit from small, frequent meals with a focus on easily digestible foods (Jacobs et al., 2018). In cases of significant malabsorption, nutritional support and supplementation are essential.

MCAS symptoms can be mitigated through antihistamines, mast cell stabilisers, and dietary adjustments, helping to control widespread inflammation and allergic reactions (Hakim, 2024).

3. Surgical Considerations and Last-Resort Interventions

While most cases of EDS can be managed conservatively, some individuals develop severe joint instability requiring surgical intervention. However, due to poor wound healing and increased risk of surgical complications, operations must be approached with caution (Jacobs et al., 2018). Procedures such as spinal fusion for cranio-cervical instability or joint reconstruction for severe instability are considered only when all other options fail.

Prolotherapy and platelet-rich plasma (PRP) injections are emerging as minimally invasive alternatives for joint stabilisation, though further research is needed to confirm their efficacy in EDS populations (Higo et al., 2024).

Expected Outcomes and Prognosis

The best treatment outcome relies on early diagnosis, proactive management, and a personalised approach. Although complete symptom resolution is unlikely, functional optimisation and improved quality of life are achievable goals (Higo et al., 2024).

In the short term, patients can expect pain reduction, improved joint stability, and enhanced daily function through a structured physiotherapy and pain management plan. Over the medium term, sustained muscle strengthening and symptom control lead to a decreased frequency of dislocations and improved endurance in daily activities. Long-term outcomes include a slower rate of joint degeneration, reduced reliance on medical interventions, and improved overall well-being (Francomano et al., 2024).

Conclusion: A Holistic and Individualised Approach

Managing EDS requires a holistic, patient-centred approach that addresses not just musculoskeletal symptoms but also the neurological, cardiovascular, gastrointestinal, and immune complications associated with the disorder. The best outcomes are achieved through a collaborative, multidisciplinary care model, ensuring that individuals with EDS receive timely interventions, adequate support, and access to appropriate therapies (Jacobs et al., 2018).

Raising awareness among healthcare providers and the public is crucial to reducing diagnostic delays and improving treatment accessibility. By integrating conservative management, medical interventions, and lifestyle modifications, individuals with EDS can experience better symptom control, improved mobility, and an enhanced quality of life (Trudgian & Flood, 2024).

References:

Francomano, C.A., Hakim, A.J., Henderson, L.G.S. & Henderson, F.C. (2024). Symptomatic: The Symptom-Based Handbook for Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. Elsevier.

Higo, A., Palmer, S., Liaghat, B., Tallis, J., Silvester, L. & Pearce, G. (2024). ‘The Effectiveness of Conservative Interventions on Pain, Function, and Quality of Life in Adults with Hypermobile Ehlers-Danlos Syndrome’, Archives of Rehabilitation Research and Clinical Translation, 6, 100360.

Jacobs, J.W.G., Cornelissens, L.J.M., Veenhuizen, M.C. & Hamel, B.C.J. (2018). Ehlers-Danlos Syndrome: A Multidisciplinary Approach. IOS Press.

Trudgian, R. & Flood, T. (2024). ‘An Exploration of the Journey to Diagnosis of Ehlers-Danlos Syndrome (EDS) for Women Living in Australia’, PLOS ONE, 19(7), e0307574.

Wu, W. & Ho, V. (2024). ‘An Overview of Ehlers-Danlos Syndrome and the Link Between Postural Orthostatic Tachycardia Syndrome and Gastrointestinal Symptoms with a Focus on Gastroparesis’, Frontiers in Neurology, 15, 1379646.