From the Guidelines
The initial workup for a patient with Ehlers-Danlos syndrome (EDS) should prioritize a multidisciplinary approach, focusing on diagnosis confirmation, symptom management, and prevention of complications, with a particular emphasis on identifying the specific EDS subtype, especially vascular EDS, as recommended by the most recent guidelines 1.
Key Components of Initial Workup
- A thorough clinical evaluation including detailed personal and family history, physical examination focusing on joint hypermobility using the Beighton score, skin hyperextensibility, and assessment for other characteristic features.
- Genetic testing to identify the specific EDS subtype, particularly for vascular EDS, which carries significant cardiovascular risks, as highlighted in the 2024 ESC guidelines for the management of peripheral arterial and aortic diseases 1.
- Management is primarily supportive and symptom-based, including:
- Physical therapy to strengthen muscles around hypermobile joints.
- Occupational therapy for adaptive strategies.
- Pain management using acetaminophen as first-line, followed by NSAIDs if needed, with caution regarding opioids due to addiction risk.
Cardiovascular Considerations
- Regular cardiovascular monitoring is essential, particularly for vascular EDS, with baseline echocardiogram and vascular imaging recommended, as complications such as aortic dissections or ruptures can be life-threatening 1.
- Patients should be counseled on lifestyle modifications including avoiding high-impact activities, contact sports, and heavy lifting.
Follow-Up and Monitoring
- Annual follow-up with specialists based on the specific EDS subtype and complications is recommended, with more frequent monitoring for vascular EDS, considering the reduced life expectancy and high risk of vascular complications 1.
- The importance of monitoring and managing cardiovascular risks is underscored by the potential for severe complications, including rupture of arteries, uterus, or intestines, and the reduced life expectancy associated with vascular EDS, as noted in the guidelines 1.
From the Research
Initial Workup for Ehlers-Danlos Syndrome
The initial workup for a patient with Ehlers-Danlos syndrome (EDS) involves a comprehensive clinical assessment, including:
- Medical history
- Family history
- Physical examination to assess joint hypermobility, skin hyperextensibility, and tissue fragility 2
- Gene panel testing with massively parallel sequencing to confirm diagnoses of the monogenic EDS types 2
Management of Ehlers-Danlos Syndrome
Management of EDS typically involves a multidisciplinary approach, including:
- Physical therapy (PT) interventions, such as therapeutic exercise, motor function training, and adaptive equipment 3, 4
- Pain management, which may include nonsteroidal anti-inflammatory drugs, neuropathic modulators, and other medications 5
- Occupational therapy and bracing to improve joint stability and reduce pain 5
- Surgical interventions, such as coiling of ruptured blood vessels, may be necessary in some cases 6
- Celiprolol treatment has been shown to have a protective effect in patients with vascular EDS, reducing the risk of major vascular events 6
Key Considerations
- A thorough clinical assessment is essential in the diagnostic process, even with advances in genetic testing 2
- A combination of different treatments is often needed for optimal symptom control 5
- Multidisciplinary care and understanding of the psychological impact of EDS are crucial for effective management 3
- Further research is needed to determine the effectiveness and dosage of PT interventions and other treatments for EDS 3, 4