What are the treatment options for Ehlers-Danlos Syndrome (EDS)?

Treatment Options for Ehlers-Danlos Syndrome (EDS)

Treatment for Ehlers-Danlos Syndrome should be tailored to the specific subtype, with vascular EDS requiring BRAF-inhibitors or celiprolol for life-threatening complications, while hypermobile EDS management focuses on physical therapy, pain management, and addressing comorbid conditions. 1, 2

Subtype-Specific Management

Vascular EDS (Type IV)

• Regular vascular surveillance using non-invasive imaging (Doppler ultrasound, CT, or MRI) is essential for monitoring 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, though it lacks FDA approval in the US 1, 2, 3
• Invasive procedures should be avoided when possible due to risk of fatal complications 1, 2
• Surgical repair carries increased risk due to tissue fragility and bleeding complications, requiring careful tissue handling and pledgeted sutures 1, 4

Hypermobile EDS

• Physical therapy with low-resistance exercise is crucial to improve joint stability by increasing muscle tone 5, 6
• Myofascial release techniques are often necessary to facilitate participation in exercise programs 5
• Orthopedic surgery should be delayed in favor of physical therapy and bracing 5
• Occupational therapy and bracing are highly effective with 70% of patients reporting improvement 6
• Vitamin C supplementation may improve hypermobility as it is a cofactor for cross-linking of collagen fibrils 5

Pain Management

• Neuromodulators such as tricyclic antidepressants, SSRIs, SNRIs, pregabalin, and gabapentin should be considered for pain management 5, 7
• Antispasmodics (hyoscyamine, dicyclomine, peppermint oil) can be used for abdominal pain 5
• Opioids should be avoided for chronic pain management, especially for abdominal pain 2, 5
• Neuropathic modulators should be used with caution as they are the least well-tolerated with 47% of patients reporting adverse effects 6
• Peripheral nerve stimulation may be beneficial for shoulder and knee pains in hypermobile EDS patients 8

Cardiovascular Management

• Echocardiogram is recommended to evaluate for aortic root dilatation 5
• For normal aortic root size, repeat echocardiogram every 2-3 years until adult height is reached 5
• For aortic root dilation, more frequent monitoring is necessary based on diameter and rate of increase 5
• Optimal blood pressure control is essential 2

Gastrointestinal Management

• For gastritis and reflux, proton pump inhibitors, H-2 blockers, and sucralfate can be used 5
• For delayed gastric emptying, promotility agents can be used 5
• For irritable bowel symptoms, antispasmodics, antidiarrheals, and laxatives can be used as needed 5
• Testing for celiac disease should be considered in patients with GI symptoms 5
• Special diets including gastroparesis diet and various elimination diets may be beneficial with appropriate nutritional counseling 1, 5

Autonomic Dysfunction Management

• For POTS, increase fluid and salt intake, exercise training, and use of compression garments 1, 5
• Pharmacological treatments for volume expansion, heart rate control, and vasoconstriction should be considered for those who don't respond to conservative measures 1, 5

Mast Cell Activation Syndrome (MCAS) Management

• When MCAS is suspected, consider treatment with histamine receptor antagonists and/or mast cell stabilizers 5
• Advise patients to avoid triggers such as certain foods, alcohol, strong smells, temperature changes, and specific medications 5

Surgical Considerations

• Surgical interventions carry significant risks due to tissue fragility, vascular vulnerability, and delayed wound healing 1
• Meticulous surgical technique is required to minimize tissue trauma 1
• Vascular interventions should be approached with extreme caution, using techniques to lessen vascular and tissue trauma 1, 4
• Multidisciplinary approach involving specialists in cardiology, gastroenterology, physical medicine, and genetics is essential 1, 8

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 2, 5
• Diagnostic catheter angiography in patients with collagen vascular diseases carries increased risks 1
• Parenteral nutrition should be avoided in hypermobile EDS patients except in life-threatening malnutrition 2