What is the treatment and supportive care for Ehlers-Danlos syndrome?

Treatment and Supportive Care for Ehlers-Danlos Syndrome

The treatment and supportive care for Ehlers-Danlos syndrome requires a multidisciplinary approach focused on subtype-specific interventions, with management of vascular complications being most critical for mortality reduction, while symptom management and physical therapy form the cornerstone of care for hypermobile EDS. 1, 2

Subtype-Specific Management

Vascular EDS (Type IV)

• Regular vascular surveillance using non-invasive imaging (Doppler ultrasound, CT, or MRI) is essential to monitor the aorta and peripheral arteries 1
• Baseline imaging from head to pelvis should be performed with annual surveillance for dilated or dissected segments 1, 2
• Celiprolol (a beta-blocker with vasodilatory properties) is recommended to reduce vascular morbidity, showing a three-fold decrease in arterial rupture 1, 3
• Invasive diagnostic procedures should be strictly avoided due to risk of fatal complications; non-invasive imaging is strongly preferred 1, 4
• Surgical repair carries increased risk due to tissue fragility and should only be performed at tertiary centers with expertise in connective tissue disorders 1, 3
• Pregnancy in vascular EDS carries significant risks due to potential uterine rupture and vessel rupture during delivery 1

Hypermobile EDS (Most Common Type)

• Treatment should focus on managing prominent GI symptoms and abnormal GI function test results 5, 1
• For patients with comorbid POTS and chronic upper GI symptoms, diagnostic testing of gastric motor functions should be considered 5, 1
• Special diets including gastroparesis diet and various elimination diets can be considered with appropriate nutritional counseling 5, 1
• POTS treatment includes increasing fluid and salt intake, exercise training, and compression garments 5, 1
• Pharmacological treatments for volume expansion, heart rate control, and vasoconstriction should be considered for patients who don't respond to conservative measures 1

Gastrointestinal Management

• Diagnostic evaluation of GI symptoms should follow a similar approach to the evaluation of disorders of gut-brain interaction in the general population 5
• Testing for celiac disease may be considered earlier in the diagnostic evaluation of patients with various GI symptoms 5
• Diagnostic testing for functional defecation disorders should be considered in patients with lower GI symptoms due to high prevalence of pelvic floor dysfunction 5
• When MCAS (Mast Cell Activation Syndrome) is suspected, treatment with histamine receptor antagonists and/or mast cell stabilizers is beneficial 5
• Avoid triggers such as certain foods, alcohol, strong smells, temperature changes, mechanical stimuli, emotional distress, or specific medications 5

Musculoskeletal Management

• Physical therapy focusing on joint stabilization and muscle strengthening is essential for managing joint hypermobility 6, 7
• Bracing and supportive devices may be necessary for unstable joints 6
• Opioids should be avoided for chronic pain management, especially in patients with gastrointestinal manifestations 1, 2
• Brain-gut behavioral therapies are recommended due to increased rates of anxiety and psychological distress 1, 2

Perioperative Considerations

• Anesthesia requires special considerations due to tissue fragility and potential complications 8
• For vascular EDS, careful hemodynamic monitoring is essential to avoid sudden blood pressure changes 8
• Joint hypermobility requires careful positioning during surgery to prevent dislocations 8
• Wound healing complications are common, requiring meticulous surgical technique 6, 8

Monitoring and Follow-up

• Regular follow-up with a multidisciplinary team is essential for all EDS subtypes 1, 2
• Genetic testing is recommended for definitive diagnosis, particularly for identification of causal variants in vascular EDS (COL3A1) 1, 9
• For vascular EDS patients with stable findings, imaging intervals can be extended after demonstrating stability 2

Common Pitfalls to Avoid

• Invasive diagnostic procedures in vascular EDS patients should be avoided due to risk of fatal complications 1, 4
• Opioid use for chronic pain management should be avoided, especially with gastrointestinal manifestations 1, 2
• Parenteral nutrition should be avoided in hEDS patients without true intestinal failure 2
• Diagnostic catheter angiography carries increased risks; non-invasive imaging should be used whenever possible 1