What is Ehlers-Danlos syndrome (EDS)?

From the Guidelines

Ehlers-Danlos syndrome type IV (vascular type) is a rare genetic disorder that requires careful management to prevent complications, particularly arterial dissection, and regular monitoring by specialists is crucial to improve quality of life and prevent mortality. According to the 2024 guideline for the primary prevention of stroke 1, Ehlers-Danlos syndrome type IV is characterized by thin skin, ecchymoses, and visceral organ rupture, with a prevalence estimated to be between 1:100,000 and 1:250,000. The syndrome is caused by a mutation in the COL3A1 gene and is inherited in an autosomal dominant pattern.

Key Features and Complications

• Arterial dissection is a major complication of Ehlers-Danlos syndrome type IV
• Thin skin and ecchymoses are common manifestations
• Visceral organ rupture is a life-threatening complication
• Prevalence estimates vary, but it is considered a rare disorder

Management and Prevention

• Regular monitoring by specialists, including cardiologists and vascular surgeons, is essential to prevent complications
• Patients should avoid high-impact activities that could cause joint damage or arterial dissection
• Genetic counseling is recommended for family planning, as the disorder is inherited in an autosomal dominant pattern
• A multidisciplinary approach involving rheumatologists, physical therapists, and pain specialists may be beneficial in managing symptoms and improving quality of life.

From the Research

Overview of Euler-Danlos Syndrome

• Ehlers-Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders involving defective collagen synthesis 2.
• Patients with EDS are prone to chronic myofascial pain, apart from other comorbidities, with approximately 90% or more EDS patients suffering from chronic pain 2.

Management of Chronic Pain in EDS

• There are no existing guidelines to manage chronic pain in EDS patients, but a multidisciplinary approach that includes pain education and lifestyle changes is recommended 2, 3.
• Treatment methods may include optimization of daily medications, participation in pain self-management sessions, cognitive behavioral therapy, graded exercises, coping, and relaxation strategies 2.
• Complimentary/alternative treatments, such as occupational therapy and bracing, have been shown to be effective in improving symptoms, with 70% of patients reporting improvement 3.
• Opioids should be used cautiously in EDS patients due to connective tissue vulnerabilities and potential side effects, and personalized plans for opioid tapering may be appropriate for those on long-term opioid therapy 4.

Use of Complementary Therapies

• Patient-initiated complementary therapy use in EDS/HSD patients is widespread, with 56% of participants reporting use of complementary therapies 5.
• The most commonly reported therapies used by EDS/HSD patients include non-steroidal anti-inflammatory drugs, acetaminophen, opioids, and physical therapy, with opioids, physical therapy, and marijuana rated as most efficacious 5.
• Providers caring for EDS/HSD patients should be aware of the broad usage of non-prescribed therapies and consider such usage in developing comprehensive treatment plans to manage chronic pain complications 5.

Nursing Management of EDS Patients

• Nurses are increasingly likely to care for patients with EDS, and awareness and recognition of the syndrome are improving 6.
• Nurses can play a crucial role in managing symptoms, recognizing and preventing serious complications, and improving patients' quality of life by providing guidance on ways to manage symptoms and prevent complications 6.