What is the management plan for Ehlers-Danlos syndrome (EDS)?

From the Guidelines

The management of Ehlers-Danlos syndrome (EDS) should prioritize a multidisciplinary approach, focusing on symptom management, preventing complications, and improving quality of life, with a particular emphasis on cardiovascular monitoring for vascular EDS, as outlined in the 2024 ESC guidelines 1. The treatment of EDS is tailored to each patient's specific symptoms, as there is no cure for this genetic connective tissue disorder.

Key Management Strategies

• Physical therapy with customized exercises to strengthen muscles, improve joint stability, and enhance proprioception without causing joint damage
• Pain management using non-pharmacological approaches (such as heat/cold therapy, TENS units, and mindfulness techniques) and medications (acetaminophen, NSAIDs, and occasionally low-dose tricyclic antidepressants)
• For acute dislocations, proper reduction techniques and temporary immobilization are necessary, while braces, splints, or orthotics may help stabilize hypermobile joints during daily activities
• Cardiovascular monitoring is essential for certain EDS subtypes, particularly vascular EDS, with regular echocardiograms and blood pressure management, as recommended by the 2022 ACC/AHA guideline 1
• Gastrointestinal symptoms may require dietary modifications, proton pump inhibitors for reflux, or motility agents
• Skin care is important to prevent complications from fragile skin, including avoiding trauma and proper wound care
• Genetic counseling should be offered to patients planning families, and psychological support is valuable for managing the chronic nature of EDS

Vascular EDS Considerations

• Vascular EDS is the most severe form of EDS, with life-threatening vascular complications, and early identification and thorough family inquiry are crucial 1
• The prognosis depends on the type of COL3A1 variant, with null variants showing a better outcome
• The rate of recurrence of organic complications in patients with vascular EDS is 1.6 events per 5-year period, and life expectancy is reduced to an average of 51 years 1 A comprehensive approach, addressing the diverse manifestations of EDS, is essential to help patients maintain function and quality of life despite the challenges of this condition, with a focus on the latest guidelines and research, such as the 2024 ESC guidelines 1 and the 2022 ACC/AHA guideline 1.

From the Research

Management Plan for Ehlers-Danlos Syndrome (EDS)

The management of Ehlers-Danlos syndrome (EDS) is complex and requires a multidisciplinary approach. The following are some key aspects of the management plan:

• Pain Management: EDS patients often experience chronic pain, which can be managed with a combination of non-opioid medications, physical therapy, and psychological support 2. Opioids should be used cautiously in EDS patients due to the risk of opioid use disorder and overdose.
• Physical Therapy: Occupational therapy and bracing have been shown to be effective in improving symptoms in EDS patients, with 70% of patients reporting improvement 3.
• Surgical Management: Surgical treatment carries a high mortality rate in vascular EDS patients, whereas endovascular treatment may be a safer option 4, 5. Simple surgical procedures are preferred over complex techniques to minimize the risk of further injury and hemorrhage.
• Medical Management: Beta blockers with vasodilating properties, such as Celiprolol, have been shown to decrease the risk of arterial rupture in vascular EDS patients 5.
• Genetic Counseling: Genetic counseling is essential for EDS patients, as the condition is inherited and can be passed on to future generations 4, 6.
• Multidisciplinary Care: EDS patients are best managed by a multidisciplinary team of healthcare professionals, including interventionalists, cardiologists, geneticists, and physical therapists, in tertiary centers with expertise in managing connective tissue disorders 6, 5.

Specific Considerations for Vascular EDS

Vascular EDS is a life-threatening condition that requires careful management to prevent complications such as arterial rupture and intestinal perforation. The following are some specific considerations for vascular EDS:

• Imaging Modalities: CT, echography, and MRI are the most useful imaging modalities for diagnosing and monitoring vascular EDS 4.
• Arteriography: Arteriography is contraindicated in vascular EDS patients due to the risk of arterial rupture 4.
• Pregnancy: Pregnant women with vascular EDS should be considered high-risk cases and receive special care to prevent complications such as uterine rupture 4.